You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Record Information
Version4.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2018-05-20 20:40:37 UTC
HMDB IDHMDB0000190
Secondary Accession Numbers
  • HMDB0003328
  • HMDB00190
  • HMDB0062492
  • HMDB03328
  • HMDB62492
Metabolite Identification
Common NameL-Lactic acid
DescriptionLactic acid is an organic acid. It is a chiral molecule, consisting of two optical isomers, L-lactic acid and D-lactic acid, with the L-isomer being the most common in living organisms. Lactic acid plays a role in several biochemical processes and is produced in the muscles during intense activity. In animals, L-lactate is constantly produced from pyruvate via the enzyme lactate dehydrogenase (LDH) in a process of fermentation during normal metabolism and exercise. It does not increase in concentration until the rate of lactate production exceeds the rate of lactate removal. This is governed by a number of factors, including monocarboxylate transporters, lactate concentration, the isoform of LDH, and oxidative capacity of tissues. The concentration of blood lactate is usually 1-2 mmol/L at rest, but can rise to over 20 mmol/L during intense exertion. There are some indications that lactate, and not glucose, is preferentially metabolized by neurons in the brain of several mammalian species, including mice, rats, and humans. Glial cells, using the lactate shuttle, are responsible for transforming glucose into lactate, and for providing lactate to the neurons. Lactate measurement in critically ill patients has been traditionally used to stratify patients with poor outcomes. However, plasma lactate levels are the result of a finely tuned interplay of factors that affect the balance between its production and its clearance. When the oxygen supply does not match its consumption, organisms adapt in many different ways, up to the point when energy failure occurs. Lactate, being part of the adaptive response, may then be used to assess the severity of the supply/demand imbalance. In such a scenario, the time to intervention becomes relevant: early and effective treatment may allow tissues and cells to revert to a normal state, as long as the oxygen machinery (i.e. mitochondria) is intact. Conversely, once the mitochondria are deranged, energy failure occurs even in the presence of normoxia. The lactate increase in critically ill patients may, therefore, be viewed as an early marker of a potentially reversible state (PMID: 16356243 ). When present in sufficiently high levels, lactic acid can act as an oncometabolite, an immunosuppressant, an acidogen, and a metabotoxin. An oncometabolite is a compound that promotes tumor growth and survival. An immunosuppressant reduces or arrests the activity of the immune system. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of lactic acid are associated with at least a dozen inborn errors of metabolism, including 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency, biotinidase deficiency, fructose-1,6-diphosphatase deficiency, glycogen storage disease type 1A (GSD1A) or Von Gierke disease, glycogenosis type IB, glycogenosis type IC, glycogenosis type VI, Hers disease, lactic acidemia, Leigh syndrome, methylmalonate semialdehyde dehydrogenase deficiency, pyruvate decarboxylase E1 component deficiency, pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase deficiency, and short chain acyl CoA dehydrogenase deficiency (SCAD deficiency). Locally high concentrations of lactic acid or lactate are found near many tumors due to the upregulation of lactate dehydrogenase (PMID: 15279558 ). Lactic acid produced by tumors through aerobic glycolysis acts as an immunosuppressant and tumor promoter (PMID: 23729358 ). Indeed, lactic acid has been found to be a key player or regulator in the development and malignant progression of a variety of cancers (PMID: 22084445 ). A number of studies have demonstrated that malignant transformation is associated with an increase in aerobic cellular lactate excretion. Lactate concentrations in various carcinomas (e.g. uterine cervix, head and neck, colorectal region) at first diagnosis of the disease, can be relatively low or extremely high (up to 40 µmol/g) in different individual tumors or within the same lesion (PMID: 15279558 ). High molar concentrations of lactate are correlated with a high incidence of distant metastasis. Low lactate tumors (< median of approximately 8 µmol/g) are associated with both an overall longer and disease-free survival compared to high lactate lesions (lactate > approximately 8 µmol/g). Lactate-induced secretion of hyaluronan by tumor-associated fibroblasts creates a milieu favourable for cell migration and metastases (PMID: 22084445 ). An acidic environment (pH 6-6.5), which is common in many tumors, allows tumor cells to evade the immune response, and therefore allows them to grow unchecked. Locally high concentrations of lactic acid are known to markedly impede the function of normal immune cells and will lead to a loss of T-cell function of human tumor-infiltrating lymphocytes (PMID: 22084445 ). Lactic acid is also an organic acid and acts as a general acidogen. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart abnormalities, kidney abnormalities, liver damage, seizures, coma, and possibly death. These are also the characteristic symptoms of the untreated IEMs mentioned above. Many affected children with organic acidemias experience intellectual disability or delayed development.
Structure
Thumb
Synonyms
ValueSource
(-)-Lactic acidChEBI
(R)-(-)-Lactic acidChEBI
D-2-Hydroxypropanoic acidChEBI
D-2-Hydroxypropionic acidChEBI
D-MilchsaeureChEBI
LACTIC ACIDChEBI
(-)-LactateGenerator
D-LactateGenerator
(R)-(-)-LactateGenerator
D-2-HydroxypropanoateGenerator
D-2-HydroxypropionateGenerator
LACTateGenerator
(R)-2-HydroxypropanoateHMDB
(R)-2-Hydroxypropanoic acidHMDB
(R)-2-HydroxypropionateHMDB
(R)-2-Hydroxypropionic acidHMDB
(R)-a-HydroxypropionateHMDB
(R)-a-Hydroxypropionic acidHMDB
(R)-alpha-HydroxypropionateHMDB
(R)-alpha-Hydroxypropionic acidHMDB
(R)-LactateHMDB
(R)-Lactic acidHMDB
D-(-)-LactateHMDB
D-(-)-Lactic acidHMDB
delta-(-)-LactateHMDB
delta-(-)-Lactic acidHMDB
delta-2-HydroxypropanoateHMDB
delta-2-Hydroxypropanoic acidHMDB
delta-2-HydroxypropionateHMDB
delta-2-Hydroxypropionic acidHMDB
delta-LactateHMDB
delta-Lactic acidHMDB
DLAHMDB
L-(+)-LactateHMDB
L-Lactic acidHMDB
PropelHMDB
TisulacHMDB
2 Hydroxypropanoic acidMeSH
2 Hydroxypropionic acidMeSH
2-Hydroxypropanoic acidMeSH
Ammonium lactateMeSH
L Lactic acidMeSH
2-Hydroxypropionic acidMeSH
Sarcolactic acidMeSH
D Lactic acidMeSH
Lactate, ammoniumMeSH
Chemical FormulaC3H6O3
Average Molecular Weight90.0779
Monoisotopic Molecular Weight90.031694058
IUPAC Name(2R)-2-hydroxypropanoic acid
Traditional NameD-lactic acid
CAS Registry Number79-33-4
SMILES
C[C@H](O)C(O)=O
InChI Identifier
InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m0/s1
InChI KeyJVTAAEKCZFNVCJ-REOHCLBHSA-N
Chemical Taxonomy
DescriptionThis compound belongs to the class of organic compounds known as alpha hydroxy acids and derivatives. These are organic compounds containing a carboxylic acid substituted with a hydroxyl group on the adjacent carbon.
KingdomOrganic compounds
Super ClassOrganic acids and derivatives
ClassHydroxy acids and derivatives
Sub ClassAlpha hydroxy acids and derivatives
Direct ParentAlpha hydroxy acids and derivatives
Alternative Parents
Substituents
  • Alpha-hydroxy acid
  • Secondary alcohol
  • Monocarboxylic acid or derivatives
  • Carboxylic acid
  • Carboxylic acid derivative
  • Organic oxygen compound
  • Organic oxide
  • Hydrocarbon derivative
  • Organooxygen compound
  • Carbonyl group
  • Alcohol
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect

Health effect:

Disposition

Route of exposure:

Source:

Biological location:

Process

Naturally occurring process:

Role

Biological role:

Indirect biological role:

Physical Properties
StateLiquid
Experimental Properties
PropertyValueReference
Melting Point16.8 °CNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility562 g/LALOGPS
logP-0.79ALOGPS
logP-0.47ChemAxon
logS0.79ALOGPS
pKa (Strongest Acidic)3.78ChemAxon
pKa (Strongest Basic)-3.7ChemAxon
Physiological Charge-1ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area57.53 ŲChemAxon
Rotatable Bond Count1ChemAxon
Refractivity18.84 m³·mol⁻¹ChemAxon
Polarizability8.05 ųChemAxon
Number of Rings0ChemAxon
Bioavailability1ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectra
Spectra
Spectrum TypeDescriptionSplash Key
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)splash10-00kb-0900000000-fb59ec16914501aa19abView in MoNA
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-014j-0900000000-c4d9e12b4b0150eda54bView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00kb-0900000000-fb59ec16914501aa19abView in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0006-9000000000-a3691f383d440fb00e1fView in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (2 TMS) - 70eV, Positivesplash10-01b9-9620000000-f7faa7db9c1be3d9d975View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Negative (Annotated)splash10-000i-9000000000-704f8ff33156c82a02d1View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 25V, Negative (Annotated)splash10-000m-9000000000-023931446d9bb3330e7fView in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 40V, Negative (Annotated)splash10-000l-9000000000-0fb29afb128baea2240bView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-IT , negativesplash10-000i-9000000000-d7cd347946e49a57860eView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-006x-9000000000-5f417f4a6d08f0ab00edView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-00dm-9000000000-df7a94bb1a9cf6e78e1aView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-004j-9000000000-dc2a1b965287b9dfee9cView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-000i-9000000000-c3686a681cc9bbf039e1View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-000i-9000000000-ddad20647c2ac56efd22View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-00di-9000000000-b728b45617afcc6b67daView in MoNA
MSMass Spectrum (Electron Ionization)splash10-002b-9000000000-50213d6b39ef9741c466View in MoNA
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR13C NMR SpectrumNot AvailableView in JSpectraViewer
2D NMR[1H,1H] 2D NMR SpectrumNot AvailableView in JSpectraViewer
2D NMR[1H,13C] 2D NMR SpectrumNot AvailableView in JSpectraViewer
Biological Properties
Cellular Locations
  • Cytoplasm
  • Extracellular
  • Mitochondria
Biospecimen Locations
  • Bile
  • Blood
  • Breast Milk
  • Cellular Cytoplasm
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Sweat
  • Urine
Tissue Locations
  • All Tissues
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified<2100 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified<2100 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified450-2200 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified1000-1550 uMAdolescent (13-18 years old)Not SpecifiedNormal details
BloodDetected and Quantified500-2200 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified<2000 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected and Quantified<2000 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified<1800 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified700-2100 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified700-1800 uMInfant (0-1 year old)BothNormal details
BloodDetected and Quantified<2000 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified<2000 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected and Quantified<2100 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified600-2300 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified700-2100 uMInfant (0-1 year old)BothNormal
    • Clinical and Labo...
details
BloodDetected and Quantified2300 (1950-3000) uMNot SpecifiedNot Specified
Normal
details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified1665.225 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected and Quantified740.0 +/- 2400.0 uMAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified500-2200 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified220-2220 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified520-1660 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified2390.0 +/- 990.0 uMNewborn (0-30 days old)BothNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified1140.0 +/- 360.0 uMChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified1510.0 (740.0-2400.0) uMAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified500-1700 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified500-2200 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified500-2200 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified<1800 uMAdult (>18 years old)FemaleNormal details
BloodDetected and Quantified1000-2000 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified<2000 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified<2200 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified700-2100 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified600-2500 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified2976.0 +/- 1555.0 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified740.00-2400.0 uMAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified700-2100 uMAdolescent (13-18 years old)MaleNormal details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified6400.0 +/- 2000.0 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified1236.0 (367.0-3245.0) uMNewborn (0-30 days old)BothNormal details
BloodDetected and Quantified1489.4 +/- 371.2 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified<2000 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected and Quantified<2000 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified500-1700 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified200-2000 uMInfant (0-1 year old)Not SpecifiedNormal details
Breast MilkDetected and Quantified69.6 +/- 41.1 uMAdult (>18 years old)Female
Normal
details
Cellular CytoplasmDetected and Quantified3200 (2900-3500) uMAdult (>18 years old)BothNormal details
Cellular CytoplasmDetected and Quantified1100 (600-1600) uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified2800 uMNot SpecifiedNot SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified800-1200 uMChildren (1-13 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified<2000 uMChildren (1-13 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified500-2200 uMNewborn (0-30 days old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified500-2300 uMChildren (1-13 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified1651 +/- 626 uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified1590.0 +/- 330.0 uMChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified1200 +/- 250 uMAdult (>18 years old)FemaleNormal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified1340 +/- 370 uMAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified1110.150-2442.330 uMInfant (0-1 year old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified830-2400 uMNot SpecifiedNot SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified850.0 +/- 400.0 uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified<2000 uMAdult (>18 years old)FemaleNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified<1700 uMInfant (0-1 year old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified2240.0 +/- 600.0 uMAdult (>18 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified850.0 (450.0-2100.0) uMAdult (>18 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified3000.0 (1850.0-4150.0) uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified1770.0 (930.0-2600.0) uMAdult (>18 years old)BothNormal details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Infant (0-1 year old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)FemaleNormal details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected and Quantified13469.823 (8104.0966-18835.549) nmol/g wet fecesInfant (0-1 year old)Not Specified
Normal
details
FecesDetected and Quantified17059.308 (0-35043.742) nmol/g wet fecesInfant (0-1 year old)Not Specified
Normal
details
FecesDetected and Quantified19686.664 (10324.397-29048.931) nmol/g wet fecesInfant (0-1 year old)Not Specified
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Not Specified
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Not SpecifiedNot Specified
Normal
details
FecesDetected but not Quantified Infant (0-1 year old)Not AvailableNormal details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)FemaleNormal details
FecesDetected but not Quantified Infant (0-1 year old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)BothNormal details
FecesDetected but not Quantified Adult (>18 years old)BothNormal details
FecesDetected but not Quantified Infant (0-1 year old)Not Specified
Normal
details
FecesDetected but not Quantified Infant (0-1 year old)Not Specified
Normal
details
FecesDetected but not Quantified Not SpecifiedNot Specified
Normal
details
FecesDetected but not Quantified Adult (>18 years old)BothNormal details
SalivaDetected and Quantified331 (17-2795) uMAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified214 (8-826) uMAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified228 (29-1336) uMAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified624 (21-18855) uMAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified451 (113-8585) uMAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified244 (64-1480) uMAdult (>18 years old)Female
Normal
details
SalivaDetected and Quantified511 +/- 612 uMAdult (>18 years old)Female
Normal
    • Sugimoto et al. (...
details
SalivaDetected and Quantified622 +/- 625 uMAdult (>18 years old)Both
Normal
    • Sugimoto et al. (...
details
SalivaDetected and Quantified96.4 +/- 68.3 uMAdult (>18 years old)Male
Normal
    • Sugimoto et al. (...
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected and Quantified4210 +/- 10430 uMAdult (>18 years old)Both
Normal
details
SalivaDetected and Quantified20310 +/- 29930 uMAdult (>18 years old)Both
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Not SpecifiedNormal details
SalivaDetected and Quantified14010 +/- 20350 uMAdult (>18 years old)Both
Normal
details
SalivaDetected and Quantified4950 +/- 9300 uMAdult (>18 years old)Both
Normal
details
SalivaDetected and Quantified5450 +/- 10940 uMAdult (>18 years old)Both
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)BothNormal details
SalivaDetected and Quantified159 +/- 71.4 uMAdult (>18 years old)BothNormal
    • Sugimoto et al. (...
details
SalivaDetected and Quantified4840 +/- 10270 uMAdult (>18 years old)Both
Normal
details
SalivaDetected and Quantified3550 +/- 7790 uMAdult (>18 years old)Both
Normal
details
SalivaDetected and Quantified227 +/- 132 uMAdult (>18 years old)Female
Normal
    • Sugimoto et al. (...
details
SalivaDetected and Quantified231 +/- 112 uMAdult (>18 years old)Female
Normal
    • Sugimoto et al. (...
details
SalivaDetected and Quantified262 +/- 280 uMAdult (>18 years old)Female
Normal
    • Sugimoto et al. (...
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected and Quantified526.98 +/- 689.57 uMAdult (>18 years old)BothNormal
    • Zerihun T. Dame, ...
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected and Quantified655.86 +/- 393.26 uMAdult (>18 years old)FemaleNormal details
SweatDetected and Quantified34000-235000 uMAdult (60 years old)Male
Normal
details
SweatDetected and Quantified< 10 uMAdult (40 years old)Male
Normal
details
SweatDetected but not Quantified Adult BothNormal details
UrineDetected and Quantified25.194 +/- 11.831 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
UrineDetected and Quantified13 (0-78) umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified12.2 +/- 47.6 umol/mmol creatinineAdult (>18 years old)BothNot Available details
UrineDetected and Quantified50.73 +/- 53.54 umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified33.32-444.29 umol/mmol creatinineAdult (>18 years old)BothNormal
    • David F. Putnam C...
details
UrineDetected and Quantified<20000 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal details
UrineDetected and Quantified3.6-11 umol/mmol creatinineAdult (>18 years old)FemaleNormal details
UrineDetected and Quantified33.4 +/- 19.27 umol/mmol creatinineAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified33.7 +/- 12.37 umol/mmol creatinineAdult (>18 years old)FemaleNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified65.6 +/- 30.5 umol/mmol creatinineNewborn (0-30 days old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified17.0 +/- 10.2 umol/mmol creatinineChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified<199.69 umol/mmol creatinineChildren (1 - 18 years old)Both
Normal
    • BC Children's Hos...
details
UrineDetected and Quantified30.9 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified12.551-125.514 umol/mmol creatinineInfant (0-1 year old)Both
Normal
details
UrineDetected and Quantified15.18 umol/mmol creatinineAdult (>18 years old)MaleNormal
    • Shaykhutdinov RA,...
details
UrineDetected and Quantified11.6 (3.5-29.3) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified33.2 +/- 11.4 umol/mmol creatinineAdult (>18 years old)MaleNormal details
UrineDetected and Quantified25 (13-46) umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified43.2 +/- 15.1 umol/mmol creatinineAdult (>18 years old)FemaleNormal details
UrineDetected and Quantified34.200 +/- 12.533 umol/mmol creatinineAdult (>18 years old)FemaleNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified33.867 +/- 19.533 umol/mmol creatinineAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified12.3 +/- 6.2 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified<37 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified15814.711 (10668.655-19956.660) umol/mmol creatinineAdult (>18 years old)Not Available
Normal
details
UrineDetected and Quantified9.084 +/- 4.404 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
UrineDetected and Quantified65.78 (21.37 – 249.66) umol/mmol creatinineAdult (>18 years old)BothNormal
    • Lorena Ivona ŞTEF...
details
UrineDetected and Quantified3.9-9.8 umol/mmol creatinineAdult (>18 years old)MaleNormal details
UrineDetected and Quantified<0.00210 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal details
UrineDetected and Quantified17.2 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified<52 umol/mmol creatinineChildren (1-13 years old)Not SpecifiedNormal details
UrineDetected but not Quantified Adult (>18 years old)Both
Normal
details
UrineDetected and Quantified7.1 (0.9-16.4) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified70.4 (27.3-268.3) umol/mmol creatinineNewborn (0-30 days old)BothNormal details
UrineDetected and Quantified104.9 (40.2-325.6) umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified18.7 (5.2-117.8) umol/mmol creatinineChildren (1-13 years old)BothNormal details
UrineDetected and Quantified15.4 (4.6-77.1) umol/mmol creatinineAdolescent (13-18 years old)BothNormal details
UrineDetected and Quantified<76 umol/mmol creatinineChildren (1-13 years old)Not SpecifiedNormal details
UrineDetected and Quantified0-150 umol/mmol creatinineChildren (1-13 years old)Not SpecifiedNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BileDetected and Quantified>10 uMAdult (>18 years old)BothHepatic and biliary malignancies details
BloodDetected and Quantified1172.1 (683.4) uMAdult (>18 years old)FemaleDown syndrome pregnancy details
BloodDetected and Quantified884.7 (369.2) uMAdult (>18 years old)FemalePregnancy details
BloodDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
BloodDetected and Quantified11300 uMChildren (1-13 years old)Not AvailablePyruvate carboxylase deficiency details
BloodDetected and Quantified17000 uMInfant (0-1 year old)Not AvailablePyruvate carboxylase deficiency details
BloodDetected and Quantified9900 +/- 8200 uMChildren (1-13 years old)BothPyruvate dehydrogenase deficiency (E1) details
BloodDetected and Quantified7020 +/- 5800 uMChildren (1-13 years old)BothPyruvate dehydrogenase deficiency E1-alpha details
BloodDetected and Quantified2400 uMChildren (1-13 years old)Male3-Methylglutaconic Aciduria (Type IX) details
BloodDetected and Quantified2600 uMInfant (0-1 year old)Female3-Methylglutaconic Aciduria (Type IX) details
BloodDetected and Quantified6660.901-8881.202 uMChildren (1-13 years old)FemaleChronic progressive external ophthalmoplegia and Kearns-Sayre syndrome details
BloodDetected but not Quantified Adult (>18 years old)Both
Oesophageal cancer
details
BloodDetected and Quantified790 uMInfant (0-1 year old)Male3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency details
BloodDetected and Quantified1401.2 +/- 692.1 uMAdult (>18 years old)BothHeart Transplant details
BloodDetected and Quantified1600 uMInfant (0-1 year old)Male
Sulfite oxidase deficiency
    • Clinical and Labo...
details
BloodDetected and Quantified1430-11520 uMInfant (0-1 year old)Male
2-Ketoglutarate dehydrogenase complex deficiency
details
BloodDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
BloodDetected and Quantified1350.0 (900.0-1800.0) uMAdult (>18 years old)BothChronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • MetaGene: Metabol...
details
BloodDetected and Quantified4000.0 (2000.0-6000.0) uMChildren (1-13 years old)BothChronic progressive external opthalmoplegia
    • MetaGene: Metabol...
details
BloodDetected and Quantified3374.857 uMInfant (0-1 year old)MaleLeigh Syndrome details
BloodDetected and Quantified500.0 +/- 130.0 uMAdult (>18 years old)BothInsulin-dependent diabetes mellitus(IDDM) details
BloodDetected and Quantified1247.6 +/- 900.3 uMAdult (>18 years old)Female
Pregnancy with fetuses with trisomy 18
details
BloodDetected and Quantified946.4 +/- 451.0 uMAdult (>18 years old)FemalePregnancy details
BloodDetected but not Quantified Adult (>18 years old)BothColorectal cancer details
BloodDetected and Quantified1006.2 (396.8) uMAdult (>18 years old)FemaleEarly preeclampsia details
BloodDetected and Quantified1035.6 (505.9) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified10000 uMInfant (0-1 year old)Male
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
details
BloodDetected and Quantified10000-37900 uMNewborn (0-30 days old)Both3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified1500-2000 uMInfant (0-1 year old)Male3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) details
BloodDetected and Quantified3140 uMNewborn (0-30 days old)Male3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified1000-3580 uMChildren (1-13 years old)Both2-Ketoglutarate dehydrogenase complex deficiency details
BloodDetected and Quantified1820.646-5273.214 uMAdult (>18 years old)BothMyoclonic epilepsy and ragged red fiber disease details
BloodDetected but not Quantified Adult (>18 years old)Bothoesophago-gastric cancer details
BloodDetected and Quantified3500.0 +/- 4300.0 uMAdult (>18 years old)BothAcute ethanol intoxication details
BloodDetected and Quantified1800-7700 uMInfant (0-1 year old)Male2,4-dienoyl-CoA reductase deficiency details
BloodDetected and Quantified7700 uMNewborn (0-30 days old)Male2-Ketoglutarate dehydrogenase complex deficiency details
BloodDetected and Quantified1400-7800 uMChildren (1-13 years old)Both2-Ketoglutarate dehydrogenase complex deficiency details
BloodDetected and Quantified2400-4300 uMInfant (0-1 year old)Male3-Hydroxyisobutyryl-coa hydrolase deficiency details
BloodDetected and Quantified1236.89 (410.48) uMAdult (>18 years old)FemalePregnancy with fetus having congenital heart defect details
BloodDetected and Quantified1270.97 (604.28) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified8000 uMNewborn (0-30 days old)Male
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
details
BloodDetected and Quantified3000-6900 uMInfant (0-1 year old)MaleDihydrolipoamide Dehydrogenase Deficiency details
BloodDetected and Quantified7600-11000 uMInfant (0-1 year old)Male
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
details
BloodDetected and Quantified200-10200 uMChildren (1-13 years old)BothInfantile Liver Failure Syndrome 2 details
BloodDetected and Quantified2200-3000 uMAdult (>18 years old)FemaleLeber Optic Atrophy and Dystonia details
BloodDetected but not Quantified Adult (>18 years old)Both
Colorectal cancer
details
BloodDetected and Quantified3800 +/- 2200 uMAdolescent (13-18 years old)BothLeigh Syndrome, French Canadian Type details
BloodDetected and Quantified8000 uMChildren (1-13 years old)MaleLipoyltransferase 1 Deficiency details
BloodDetected and Quantified9600 uMInfant (0-1 year old)MaleMitochondrial Myopathy, Infantile, Transient details
BloodDetected and Quantified7000-16000 uMNewborn (0-30 days old)MaleNarp Syndrome details
BloodDetected and Quantified3800 uMInfant (0-1 year old)FemaleNarp Syndrome details
BloodDetected and Quantified1700 uMChildren (1-13 years old)Female2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency details
BloodDetected and Quantified1213.1 (564.7) uMAdult (>18 years old)FemaleLate-onset preeclampsia details
BloodDetected and Quantified1100.9 (689.3) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified10000 +/- 3800 uMChildren (1-13 years old)FemalePearson Syndrome details
BloodDetected and Quantified3000-3900 uMChildren (1-13 years old)MalePearson Syndrome details
BloodDetected and Quantified7000 uMInfant (0-1 year old)FemalePearson Syndrome details
BloodDetected and Quantified850-2050 uMChildren (1-13 years old)BothPhosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic details
BloodDetected and Quantified2900 uMNewborn (0-30 days old)MalePhosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic details
BloodDetected but not Quantified Adult (>18 years old)Both
Pancreatic
details
BloodDetected and Quantified1400 (900-1800) uMAdult (>18 years old)Both
Myopathy with lactic acidosis, hereditary
details
BloodDetected and Quantified11800 (6500-19900) uMInfant (0-1 year old)Both
GRACILE syndrome
details
BloodDetected and Quantified20000 uMInfant (0-1 year old)Female
Fructose-1,6-bisphosphatase deficiency
details
BloodDetected and Quantified8600 (6700-13600) uMAdult (>18 years old)Both
Myopathy with lactic acidosis, hereditary
details
BloodDetected and Quantified10800 uMAdolescent (13-18 years old)MaleMitochondrial complex I deficiency due to ACAD9 deficiency details
BloodDetected and Quantified5100 (3500-6400) uMAdult (>18 years old)Both
Myopathy with lactic acidosis, hereditary
details
BloodDetected and Quantified6000-10000 uMInfant (0-1 year old)Female
Fructose-1,6-bisphosphatase deficiency
details
BloodDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
BloodDetected and Quantified3000 uMAdolescent (13-18 years old)MaleCoenzyme Q10 deficiency details
BloodDetected and Quantified22000 uMNewborn (0-30 days old)MaleCoenzyme Q10 deficiency, primary, 5 details
BloodDetected and Quantified13000-17900 uMNewborn (0-30 days old)BothCombined oxidative phosphorylation deficiency 10 details
BloodDetected and Quantified4500.00 (3000.00-6000.00) uMChildren (1-13 years old)BothLethal infantile mitochondrial disease
    • MetaGene: Metabol...
details
BloodDetected and Quantified3200 uMNewborn (0-30 days old)MaleCombined oxidative phosphorylation deficiency 11 details
BloodDetected and Quantified6500 uMInfant (0-1 year old)MaleCombined oxidative phosphorylation deficiency 12 details
BloodDetected and Quantified6000 uMChildren (1-13 years old)FemaleEpileptic encephalopathy, early infantile, 39 details
BloodDetected and Quantified5200 uMChildren (1-13 years old)MaleFructose intolerance, hereditary details
BloodDetected and Quantified4600-57700 uMNewborn (0-30 days old)MaleHyperglycinemia, lactic acidosis, and seizures details
BloodDetected and Quantified15000 uMInfant (0-1 year old)FemaleMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration details
BloodDetected and Quantified2100-8500 uMChildren (1-13 years old)BothMethylmalonic aciduria mitochondrial encephelopathy Leigh-like details
BloodDetected and Quantified3700-36000 uMInfant (0-1 year old)Not AvailableMitochondrial trifunctional protein deficiency details
BloodDetected and Quantified4500-9800 uMChildren (1-13 years old)BothMitochondrial-encephalopathy-lactic acidosis-stroke details
BloodDetected and Quantified9200-10000 uMChildren (1-13 years old)BothMyopathy, lactic acidosis, and sideroblastic anemia 1 details
BloodDetected and Quantified1420-12480 uMChildren (1-13 years old)BothMyopathy, lactic acidosis, and sideroblastic anemia 1 details
BloodDetected and Quantified15000 uMInfant (0-1 year old)MalePyruvate dehydrogenase phosphatase deficiency details
BloodDetected and Quantified3500-14000 uMChildren (1-13 years old)BothSengers syndrome details
BloodDetected and Quantified3200-30000 uMInfant (0-1 year old)Not SpecifiedAcute Infantile Liver Failure details
BloodDetected and Quantified7000-20000 uMNewborn (0-30 days old)Not SpecifiedAcute Infantile Liver Failure details
BloodDetected and Quantified1000-3700 uMChildren (1-13 years old)FemaleCerebral creatine deficiency syndrome 2 details
BloodDetected and Quantified4300 uMInfant (0-1 year old)FemaleCombined oxidative phosphorylation deficiency 14 details
BloodDetected and Quantified1700 uMChildren (1-13 years old)MaleD-Lactic Acidosis details
BloodDetected and Quantified4000-14000 uMNewborn (0-30 days old)FemaleMitochondrial phosphate carrier deficiency details
BloodDetected and Quantified7000-8000 uMNewborn (0-30 days old)FemaleMitochondrial pyruvate carrier deficiency details
BloodDetected and Quantified1260 uMChildren (1-13 years old)Male
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
details
Cellular CytoplasmDetected and Quantified16000 (13000-19000) uMAdult (>18 years old)BothAnoxia details
Cerebrospinal Fluid (CSF)Detected and Quantified4000 uMChildren (1-13 years old)MaleCoenzyme Q10 deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified5900 uMNewborn (0-30 days old)MaleCombined oxidative phosphorylation deficiency 11 details
Cerebrospinal Fluid (CSF)Detected and Quantified2600 uMChildren (1-13 years old)FemaleEpileptic encephalopathy, early infantile, 39 details
Cerebrospinal Fluid (CSF)Detected and Quantified2200-6300 uMChildren (1-13 years old)BothMitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2 details
Cerebrospinal Fluid (CSF)Detected and Quantified4800 uMChildren (1-13 years old)Male3-Methylglutaconic Aciduria (Type IX) details
Cerebrospinal Fluid (CSF)Detected and Quantified1200-2600 uMChildren (1-13 years old)FemaleCerebral creatine deficiency syndrome 2 details
Cerebrospinal Fluid (CSF)Detected and Quantified7200 uMInfant (0-1 year old)FemaleCombined oxidative phosphorylation deficiency 14 details
Cerebrospinal Fluid (CSF)Detected and Quantified1500 uMChildren (1-13 years old)MaleD-Lactic Acidosis details
Cerebrospinal Fluid (CSF)Detected and Quantified5900 +/- 4500 uMChildren (1-13 years old)BothPyruvate dehydrogenase deficiency (E1) details
Cerebrospinal Fluid (CSF)Detected and Quantified6070 +/- 3000 uMChildren (1-13 years old)BothPyruvate dehydrogenase deficiency E1-alpha details
Cerebrospinal Fluid (CSF)Detected and Quantified1300.0 (500.0-2100.0) uMAdult (>18 years old)BothCytochrome C oxidase deficiency
    • MetaGene: Metabol...
details
Cerebrospinal Fluid (CSF)Detected and Quantified6850.0 (1700.0-12000) uMChildren (1-13 years old)BothCytochrome C oxidase deficiency
    • MetaGene: Metabol...
details
Cerebrospinal Fluid (CSF)Detected and Quantified1930-2500 uMChildren (1-13 years old)Both2-Ketoglutarate dehydrogenase complex deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified11767.592 uMInfant (0-1 year old)MaleCoenzyme Q10 deficiency, primary, 1 details
Cerebrospinal Fluid (CSF)Detected and Quantified2109.285-6527.683 uMAdult (>18 years old)BothMyoclonic epilepsy and ragged red fiber disease details
Cerebrospinal Fluid (CSF)Detected and Quantified4100 uMInfant (0-1 year old)Male2,4-dienoyl-CoA reductase deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified3700 uMAdult (>18 years old)FemaleLeber Optic Atrophy and Dystonia details
Cerebrospinal Fluid (CSF)Detected and Quantified3600-6200 uMAdolescent (13-18 years old)BothLeigh Syndrome, French Canadian Type details
Cerebrospinal Fluid (CSF)Detected and Quantified6600 uMChildren (1-13 years old)MaleLipoyltransferase 1 Deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified6000 uMNewborn (0-30 days old)MaleNarp Syndrome details
Cerebrospinal Fluid (CSF)Detected and Quantified4400-5400 uMInfant (0-1 year old)BothNarp Syndrome details
Cerebrospinal Fluid (CSF)Detected and Quantified4577.0 (1684.0-7470.0) uMAdult (>18 years old)BothDementia of Alzheimer type (DAT) details
FecesDetected but not Quantified Adult (>18 years old)BothColorectal Cancer details
FecesDetected but not Quantified Infant (0-1 year old)Not SpecifiedGenetically At-Risk of celiac disease details
FecesDetected but not Quantified Adult (>18 years old)Both
Irritable bowel syndrome
details
FecesDetected but not Quantified Adult (>18 years old)Both
Ulcerative colitis
details
FecesDetected but not Quantified Not SpecifiedNot Specified
Cryptosporidium infection
details
FecesDetected but not Quantified Adult (>18 years old)FemaleMyalgic encephalomyelitis/chronic fatigue syndrome details
FecesDetected but not Quantified Adult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not Quantified Adult (>18 years old)BothIrritable Bowel Syndrome details
FecesDetected but not Quantified Adult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not Quantified Adult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not Quantified Adult (>18 years old)BothColorectal Cancer details
FecesDetected but not Quantified Adult (>18 years old)BothCrohns disease details
FecesDetected but not Quantified Adult (>18 years old)BothUlcerative colitis details
SalivaDetected and Quantified919.97 +/- 827.31 uMAdult (>18 years old)MaleAlzheimer's disease details
SalivaDetected and Quantified811.10 +/- 931.32 uMAdult (>18 years old)MaleFrontotemporal lobe dementia details
SalivaDetected but not Quantified Adult (>18 years old)BothOral squamous cell carcinoma (OSCC) details
SalivaDetected but not Quantified Adult (>18 years old)BothOral leukoplakia (OLK) details
SalivaDetected and Quantified1429.05 +/- 1493.26 uMAdult (>18 years old)BothLewy body disease details
SalivaDetected and Quantified250 +/- 142 uMAdult (>18 years old)BothTemporomandibular joint disorder (TMD)
    • Sugimoto et al. (...
details
UrineDetected and Quantified20.237 +/- 15.482 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified>75000 umol/mmol creatinineInfant (0-1 year old)Not AvailablePyruvate carboxylase deficiency details
UrineDetected and Quantified59000 umol/mmol creatinineChildren (1-13 years old)Not AvailablePyruvate carboxylase deficiency details
UrineDetected and Quantified38000 umol/mmol creatinineChildren (1-13 years old)Male3-Methylglutaconic Aciduria (Type V) details
UrineDetected and Quantified12.5 (0.00-25.0) umol/mmol creatinineAdult (>18 years old)BothCytochrome C oxidase deficiency
    • MetaGene: Metabol...
details
UrineDetected and Quantified37550.0 (100.0-75000.0) umol/mmol creatinineChildren (1-13 years old)BothCytochrome C oxidase deficiency
    • MetaGene: Metabol...
details
UrineDetected and Quantified440 umol/mmol creatinineAdult (>18 years old)BothParaquat poisoning details
UrineDetected and Quantified12.551-1701.964 umol/mmol creatinineInfant (0-1 year old)Both
Amish lethal microcephaly
details
UrineDetected and Quantified0.0015 - 0.0226 umol/mmol creatinineAdult (>18 years old)BothADPKD details
UrineDetected and Quantified4 umol/mmol creatinineAdult (>18 years old)Not Specified
Propionic acidemia
details
UrineDetected and Quantified22717.959 (5146.0569-92252.484) umol/mmol creatinineAdult (>18 years old)Not Available
Fructose intolerance, hereditary
details
UrineDetected but not Quantified Adult (>18 years old)BothColorectal cancer details
UrineDetected and Quantified29508.66 umol/mmol creatinineInfant (0-1 year old)MaleDihydrolipoamide Dehydrogenase Deficiency details
UrineDetected and Quantified10.427 +/- 6.717 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified40.788 +/- 110.925 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Gastroesophageal reflux disease
    • Mordechai, Hien, ...
details
UrineDetected and Quantified90.28 (23.35 – 424.10) umol/mmol creatinineAdult (>18 years old)BothType 1 diabetes Mellitus
    • Lorena Ivona ŞTEF...
details
UrineDetected and Quantified0.000950-0.0260 umol/mmol creatinineChildren (1-13 years old)Female3-Methylglutaconic Aciduria (Type VI) details
UrineDetected and Quantified252 umol/mmol creatinineChildren (1-13 years old)MaleLipoyltransferase 1 Deficiency details
UrineDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
UrineDetected and Quantified352 umol/mmol creatinineNewborn (0-30 days old)FemaleDeafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome details
UrineDetected and Quantified7602-20 umol/mmol creatinineChildren (1-13 years old)BothPearson Syndrome details
Associated Disorders and Diseases
Disease References
2-Ketoglutarate dehydrogenase complex deficiency
  1. Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr. 1992 Aug;121(2):255-8. [PubMed:1640293 ]
  2. Kohlschutter A, Behbehani A, Langenbeck U, Albani M, Heidemann P, Hoffmann G, Kleineke J, Lehnert W, Wendel U: A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Pediatr. 1982 Feb;138(1):32-7. [PubMed:7075624 ]
  3. Guffon N, Lopez-Mediavilla C, Dumoulin R, Mousson B, Godinot C, Carrier H, Collombet JM, Divry P, Mathieu M, Guibaud P: 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case. J Inherit Metab Dis. 1993;16(5):821-30. [PubMed:8295396 ]
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  1. Ozand PT, al Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis. 1991;14(2):174-88. [PubMed:1886403 ]
  2. Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938 ]
Ethanol intoxication
  1. Fulop M, Bock J, Ben-Ezra J, Antony M, Danzig J, Gage JS: Plasma lactate and 3-hydroxybutyrate levels in patients with acute ethanol intoxication. Am J Med. 1986 Feb;80(2):191-4. [PubMed:3080879 ]
Alzheimer's disease
  1. Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
Pregnancy
  1. Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
  2. Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
  3. Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8. [PubMed:23313728 ]
  4. Bahado-Singh RO, Akolekar R, Chelliah A, Mandal R, Dong E, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester trisomy 18 detection. Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25. [PubMed:23535240 ]
  5. Bahado-Singh RO, Ertl R, Mandal R, Bjorndahl TC, Syngelaki A, Han B, Dong E, Liu PB, Alpay-Savasan Z, Wishart DS, Nicolaides KH: Metabolomic prediction of fetal congenital heart defect in the first trimester. Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1. [PubMed:24704061 ]
Anoxia
  1. Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed:8579834 ]
Autosomal dominant polycystic kidney disease
  1. Gronwald W, Klein MS, Zeltner R, Schulze BD, Reinhold SW, Deutschmann M, Immervoll AK, Boger CA, Banas B, Eckardt KU, Oefner PJ: Detection of autosomal dominant polycystic kidney disease by NMR spectroscopic fingerprinting of urine. Kidney Int. 2011 Jun;79(11):1244-53. doi: 10.1038/ki.2011.30. Epub 2011 Mar 9. [PubMed:21389975 ]
Colorectal cancer
  1. Monleon D, Morales JM, Barrasa A, Lopez JA, Vazquez C, Celda B: Metabolite profiling of fecal water extracts from human colorectal cancer. NMR Biomed. 2009 Apr;22(3):342-8. doi: 10.1002/nbm.1345. [PubMed:19006102 ]
  2. Qiu Y, Cai G, Su M, Chen T, Zheng X, Xu Y, Ni Y, Zhao A, Xu LX, Cai S, Jia W: Serum metabolite profiling of human colorectal cancer using GC-TOFMS and UPLC-QTOFMS. J Proteome Res. 2009 Oct;8(10):4844-50. doi: 10.1021/pr9004162. [PubMed:19678709 ]
  3. Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14. [PubMed:25105552 ]
  4. Lin Y, Ma C, Liu C, Wang Z, Yang J, Liu X, Shen Z, Wu R: NMR-based fecal metabolomics fingerprinting as predictors of earlier diagnosis in patients with colorectal cancer. Oncotarget. 2016 May 17;7(20):29454-64. doi: 10.18632/oncotarget.8762. [PubMed:27107423 ]
  5. Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ]
  6. Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ]
  7. Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
Crohn's disease
  1. Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1. [PubMed:25598765 ]
Cytochrome C oxidase deficiency
  1. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Dementia
  1. Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed:9693263 ]
Diabetes mellitus type 1
  1. Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widen L, Ekberg K: Effect of acute hyperketonemia on the cerebral uptake of ketone bodies in nondiabetic subjects and IDDM patients. Am J Physiol Endocrinol Metab. 2002 Jul;283(1):E20-8. [PubMed:12067838 ]
  2. (). Lorena Ivona ŞTEFAN, Alina NICOLESCU, Simona POPA, Maria MOŢA, Eugenia KOVACS and Calin DELEANU. 1H-NMR URINE METABOLIC PROFILING IN TYPE 1 DIABETES MELLITUS. Rev. Roum. Chim., 2010, 55(11-12), 1033-1037 . .
Schizophrenia
  1. Yang J, Chen T, Sun L, Zhao Z, Qi X, Zhou K, Cao Y, Wang X, Qiu Y, Su M, Zhao A, Wang P, Yang P, Wu J, Feng G, He L, Jia W, Wan C: Potential metabolite markers of schizophrenia. Mol Psychiatry. 2013 Jan;18(1):67-78. doi: 10.1038/mp.2011.131. Epub 2011 Oct 25. [PubMed:22024767 ]
  2. Xuan J, Pan G, Qiu Y, Yang L, Su M, Liu Y, Chen J, Feng G, Fang Y, Jia W, Xing Q, He L: Metabolomic profiling to identify potential serum biomarkers for schizophrenia and risperidone action. J Proteome Res. 2011 Dec 2;10(12):5433-43. doi: 10.1021/pr2006796. Epub 2011 Nov 8. [PubMed:22007635 ]
  3. Cai HL, Li HD, Yan XZ, Sun B, Zhang Q, Yan M, Zhang WY, Jiang P, Zhu RH, Liu YP, Fang PF, Xu P, Yuan HY, Zhang XH, Hu L, Yang W, Ye HS: Metabolomic analysis of biochemical changes in the plasma and urine of first-episode neuroleptic-naive schizophrenia patients after treatment with risperidone. J Proteome Res. 2012 Aug 3;11(8):4338-50. doi: 10.1021/pr300459d. Epub 2012 Jul 26. [PubMed:22800120 ]
Frontotemporal dementia
  1. Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
Fructose-1,6-diphosphatase deficiency
  1. Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM: Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. J Clin Invest. 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018. [PubMed:4341015 ]
Hepatic and biliary malignancies
  1. Khan SA, Cox IJ, Hamilton G, Thomas HC, Taylor-Robinson SD: In vivo and in vitro nuclear magnetic resonance spectroscopy as a tool for investigating hepatobiliary disease: a review of H and P MRS applications. Liver Int. 2005 Apr;25(2):273-81. [PubMed:15780050 ]
Irritable bowel syndrome
  1. Le Gall G, Noor SO, Ridgway K, Scovell L, Jamieson C, Johnson IT, Colquhoun IJ, Kemsley EK, Narbad A: Metabolomics of fecal extracts detects altered metabolic activity of gut microbiota in ulcerative colitis and irritable bowel syndrome. J Proteome Res. 2011 Sep 2;10(9):4208-18. doi: 10.1021/pr2003598. Epub 2011 Aug 8. [PubMed:21761941 ]
  2. Hong YS, Hong KS, Park MH, Ahn YT, Lee JH, Huh CS, Lee J, Kim IK, Hwang GS, Kim JS: Metabonomic understanding of probiotic effects in humans with irritable bowel syndrome. J Clin Gastroenterol. 2011 May-Jun;45(5):415-25. doi: 10.1097/MCG.0b013e318207f76c. [PubMed:21494186 ]
Paraquat poisoning
  1. Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed:9625050 ]
Propionic acidemia
  1. Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. [PubMed:28853722 ]
Pyruvate carboxylase deficiency
  1. Habarou F, Brassier A, Rio M, Chretien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P: Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis. Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar. [PubMed:28649521 ]
Pyruvate dehydrogenase deficiency
  1. Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW: The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. [PubMed:22079328 ]
Sulfite oxidase deficiency, ISOLATED
  1. Choong T. et al. (2010). Clinical and Laboratory Barriers to the Timely Diagnosis of Sulphite Oxidase Deficiency. Proceedings of Singapore Healthcare, 19(2), 94-100.. Proceedings of Singapore Healthcare.
Temporomandibular joint disorder
  1. (). Sugimoto et al. (2013) Physiological and environmental parameters associated with mass spectrometry-based salivary metabolomic profiles. . .
Pancreatic cancer
  1. OuYang D, Xu J, Huang H, Chen Z: Metabolomic profiling of serum from human pancreatic cancer patients using 1H NMR spectroscopy and principal component analysis. Appl Biochem Biotechnol. 2011 Sep;165(1):148-54. doi: 10.1007/s12010-011-9240-0. Epub 2011 Apr 20. [PubMed:21505807 ]
Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
  1. Boles RG, Baldwin EE, Prezant TR: Combined cyclic vomiting and Kearns-Sayre syndromes. Pediatr Neurol. 2007 Feb;36(2):135-6. [PubMed:17275670 ]
  2. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Leigh's syndrome, subacute necrotizing encephalopathy, SNE
  1. Hommes FA, Polman HA, Reerink JD: Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child. 1968 Aug;43(230):423-6. [PubMed:4873809 ]
Eosinophilic esophagitis
  1. (). Mordechai, Hien, and David S. Wishart. .
Mitochondrial complex I deficiency due to ACAD9 deficiency
  1. He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J: A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet. 2007 Jul;81(1):87-103. Epub 2007 Jun 4. [PubMed:17564966 ]
Amish lethal microcephaly
  1. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH: Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529. [PubMed:12376931 ]
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  1. Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005 Sep;58(3):488-91. [PubMed:16148061 ]
2,4-dienoyl-CoA reductase deficiency
  1. Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ: Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8. [PubMed:24847004 ]
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
  1. Morris AA, Lascelles CV, Olpin SE, Lake BD, Leonard JV, Quant PA: Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. Pediatr Res. 1998 Sep;44(3):392-6. doi: 10.1203/00006450-199809000-00021. [PubMed:9727719 ]
  2. Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B: Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2017 Oct 14. doi: 10.1007/8904_2017_59. [PubMed:29030856 ]
3-Hydroxyacyl-CoA dehydrogenase deficiency
  1. Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M: 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6. [PubMed:23430856 ]
3-Hydroxyisobutyryl-coa hydrolase deficiency
  1. Reuter MS, Sass JO, Leis T, Kohler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bahr L, Trollmann R, Uebe S, Ekici AB, Reis A: HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766. Epub 2014 Sep 23. [PubMed:25251209 ]
3-Methylglutaconic Aciduria type IX
  1. Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC: Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. [PubMed:27573165 ]
3-Methylglutaconic Aciduria type V
  1. Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A, Tyni T: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. doi: 10.1038/pr.2012.92. Epub 2012 Jul 13. [PubMed:22797137 ]
3-Methylglutaconic Aciduria type VI
  1. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. [PubMed:16527507 ]
Acute Infantile Liver Failure
  1. Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rotig A, Tarassov I, Elpeleg O: Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. [PubMed:19732863 ]
Cerebral creatine deficiency syndrome 2
  1. Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr. 1997 Oct;131(4):626-31. [PubMed:9386672 ]
Coenzyme Q10 deficiency
  1. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rotig A: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. [PubMed:18319072 ]
Coenzyme Q10 deficiency, primary, 1
  1. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F: COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol. 2007 Oct;18(10):2773-80. doi: 10.1681/ASN.2006080833. Epub 2007 Sep 12. [PubMed:17855635 ]
Coenzyme Q10 deficiency, primary, 5
  1. Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F: Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur J Hum Genet. 2016 Mar;24(3):450-4. doi: 10.1038/ejhg.2015.133. Epub 2015 Jun 17. [PubMed:26081641 ]
Combined oxidative phosphorylation deficiency 10
  1. Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M: Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17. [PubMed:22608499 ]
Combined oxidative phosphorylation deficiency 11
  1. Ferreiro-Barros CC, Tengan CH, Barros MH, Palenzuela L, Kanki C, Quinzii C, Lou J, El Gharaby N, Shokr A, De Vivo DC, DiMauro S, Hirano M: Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis. J Neurol Sci. 2008 Dec 15;275(1-2):128-32. doi: 10.1016/j.jns.2008.08.028. Epub 2008 Oct 2. [PubMed:18835491 ]
Combined oxidative phosphorylation deficiency 12
  1. Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. [PubMed:22492562 ]
Combined oxidative phosphorylation deficiency 14
  1. Elo JM, Yadavalli SS, Euro L, Isohanni P, Gotz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A: Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet. 2012 Oct 15;21(20):4521-9. doi: 10.1093/hmg/dds294. Epub 2012 Jul 23. [PubMed:22833457 ]
D-Lactic Acidosis
  1. Duran M, Van Biervliet JP, Kamerling JP, Wadman SK: D-lactic aciduria, an inborn error of metabolism? Clin Chim Acta. 1977 Feb 1;74(3):297-300. [PubMed:832430 ]
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome
  1. James AW, Miranda SG, Culver K, Hall BD, Golabi M: DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. 2007 Dec 1;143A(23):2821-31. doi: 10.1002/ajmg.a.32054. [PubMed:17994565 ]
Dihydrolipoamide Dehydrogenase Deficiency
  1. Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I: Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta. 1983 Sep 30;133(2):133-40. [PubMed:6688766 ]
Epileptic encephalopathy, early infantile, 39
  1. Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A: AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. [PubMed:19641205 ]
Fructose intolerance, hereditary
  1. Steinmann B, Gitzelmann R: The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep;36(4):297-316. [PubMed:6268573 ]
  2. Valadares ER, Cruz AF, Adelino TE, Kanufre Vde C, Ribeiro Mdo C, Penido MG, Peret Filho LA, Valadares LM: Hereditary fructose intolerance in Brazilian patients. Mol Genet Metab Rep. 2015 Jun 15;4:35-8. doi: 10.1016/j.ymgmr.2015.05.007. eCollection 2015 Sep. [PubMed:26937407 ]
GRACILE syndrome
  1. Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76. Epub 2002 Sep 5. [PubMed:12215968 ]
Hyperglycinemia, lactic acidosis, and seizures
  1. Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W: Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. [PubMed:22152680 ]
Infantile Liver Failure Syndrome 2
  1. Staufner C, Haack TB, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF: Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5. [PubMed:26541327 ]
Leber Optic Atrophy and Dystonia
  1. Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ: A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. Arch Neurol. 2007 Jun;64(6):890-3. doi: 10.1001/archneur.64.6.890. [PubMed:17562939 ]
Leigh Syndrome, French Canadian Type
  1. Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA: LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J Med Genet. 2011 Mar;48(3):183-9. doi: 10.1136/jmg.2010.081976. Epub 2011 Jan 25. [PubMed:21266382 ]
Lipoyltransferase 1 Deficiency
  1. Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P: Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192. [PubMed:24341803 ]
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
  1. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y: Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. [PubMed:26805781 ]
Methylmalonic aciduria mitochondrial encephelopathy Leigh-like
  1. Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA: SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14. [PubMed:17301081 ]
Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2
  1. Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M: Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain. 2007 Mar;130(Pt 3):853-61. Epub 2007 Feb 7. [PubMed:17287286 ]
Mitochondrial Myopathy, Infantile, Transient
  1. Chen TH, Tu YF, Goto YI, Jong YJ: Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T>C mt-tRNAGlu mutation. QJM. 2013 Oct;106(10):953-4. doi: 10.1093/qjmed/hct151. Epub 2013 Jul 10. [PubMed:23842486 ]
Mitochondrial phosphate carrier deficiency
  1. Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W: Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007 Mar;80(3):478-84. Epub 2007 Jan 10. [PubMed:17273968 ]
Mitochondrial pyruvate carrier deficiency
  1. Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM: Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Mol Genet Metab. 2003 Mar;78(3):186-92. [PubMed:12649063 ]
Mitochondrial trifunctional protein deficiency
  1. den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA: Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231. [PubMed:12838198 ]
Mitochondrial-encephalopathy-lactic acidosis-stroke
  1. Koo B, Becker LE, Chuang S, Merante F, Robinson BH, MacGregor D, Tein I, Ho VB, McGreal DA, Wherrett JR, et al.: Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol. 1993 Jul;34(1):25-32. doi: 10.1002/ana.410340107. [PubMed:8517676 ]
Myoclonic epilepsy and ragged red fiber disease
  1. Ozawa M, Goto Y, Sakuta R, Tanno Y, Tsuji S, Nonaka I: The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord. 1995 Nov;5(6):483-8. [PubMed:8580730 ]
Myopathy with lactic acidosis, hereditary
  1. LARSSON LE, LINDERHOLM H, MUELLER R, RINGQVIST T, SOERNAES R: HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS. J Neurol Neurosurg Psychiatry. 1964 Oct;27:361-80. [PubMed:14213465 ]
Myopathy, lactic acidosis, and sideroblastic anemia 1
  1. Casas KA, Fischel-Ghodsian N: Mitochondrial myopathy and sideroblastic anemia. Am J Med Genet A. 2004 Mar 1;125A(2):201-4. doi: 10.1002/ajmg.a.20368. [PubMed:14981724 ]
  2. Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chretien D, Rotig A, Rabier D, Saudubray JM, Rustin P, Munnich A: The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr. 1999 Jan;158(1):55-8. [PubMed:9950309 ]
Pearson Syndrome
  1. Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N: Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. [PubMed:25691415 ]
Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic
  1. Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM: Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6. [PubMed:28216384 ]
  2. Santra S, Cameron JM, Shyr C, Zhang L, Drogemoller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD: Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Mol Genet Metab. 2016 May;118(1):21-7. doi: 10.1016/j.ymgme.2016.03.001. Epub 2016 Mar 4. [PubMed:26971250 ]
Pyruvate dehydrogenase deficiency (E1)
  1. Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW: The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. [PubMed:22079328 ]
Pyruvate dehydrogenase phosphatase deficiency
  1. Robinson BH, Sherwood WG: Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy. Pediatr Res. 1975 Dec;9(12):935-9. doi: 10.1203/00006450-197512000-00015. [PubMed:172850 ]
Sengers syndrome
  1. Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C: Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. [PubMed:16736096 ]
Ulcerative colitis
  1. Le Gall G, Noor SO, Ridgway K, Scovell L, Jamieson C, Johnson IT, Colquhoun IJ, Kemsley EK, Narbad A: Metabolomics of fecal extracts detects altered metabolic activity of gut microbiota in ulcerative colitis and irritable bowel syndrome. J Proteome Res. 2011 Sep 2;10(9):4208-18. doi: 10.1021/pr2003598. Epub 2011 Aug 8. [PubMed:21761941 ]
  2. Bjerrum JT, Wang Y, Hao F, Coskun M, Ludwig C, Gunther U, Nielsen OH: Metabonomics of human fecal extracts characterize ulcerative colitis, Crohn's disease and healthy individuals. Metabolomics. 2015;11:122-133. Epub 2014 Jun 1. [PubMed:25598765 ]
Early preeclampsia
  1. Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
Late-onset preeclampsia
  1. Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
Lewy body disease
  1. Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
Associated OMIM IDs
  • 222100 (Diabetes mellitus type 1)
  • 530000 (Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome)
  • 260350 (Pancreatic cancer)
  • 181500 (Schizophrenia)
  • 272300 (Sulfite oxidase deficiency, ISOLATED)
  • 203740 (2-Ketoglutarate dehydrogenase complex deficiency)
  • 246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • 605911 (3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency)
  • 300438 (2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
  • 611126 (Mitochondrial complex I deficiency due to ACAD9 deficiency)
  • 231530 (3-Hydroxyacyl-CoA dehydrogenase deficiency)
  • 250620 (3-Hydroxyisobutyryl-coa hydrolase deficiency)
  • 617698 (3-Methylglutaconic Aciduria type IX)
  • 256000 (Leigh's syndrome, subacute necrotizing encephalopathy, SNE)
  • 545000 (Myoclonic epilepsy and ragged red fiber disease)
  • 255125 (Myopathy with lactic acidosis, hereditary)
  • 603358 (GRACILE syndrome)
  • 229700 (Fructose-1,6-diphosphatase deficiency)
  • 614654 (Coenzyme Q10 deficiency, primary, 5)
  • 614702 (Combined oxidative phosphorylation deficiency 10)
  • 614922 (Combined oxidative phosphorylation deficiency 11)
  • 614924 (Combined oxidative phosphorylation deficiency 12)
  • 612949 (Epileptic encephalopathy, early infantile, 39)
  • 614462 (Hyperglycinemia, lactic acidosis, and seizures)
  • 616878 (Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration)
  • 609015 (Mitochondrial trifunctional protein deficiency)
  • 540000 (Mitochondrial-encephalopathy-lactic acidosis-stroke)
  • 600462 (Myopathy, lactic acidosis, and sideroblastic anemia 1)
  • 608782 (Pyruvate dehydrogenase phosphatase deficiency)
  • 212350 (Sengers syndrome)
  • 613070 (Acute Infantile Liver Failure)
  • 612736 (Cerebral creatine deficiency syndrome 2)
  • 614946 (Combined oxidative phosphorylation deficiency 14)
  • 245450 (D-Lactic Acidosis)
  • 610773 (Mitochondrial phosphate carrier deficiency)
  • 614741 (Mitochondrial pyruvate carrier deficiency)
  • 266150 (Pyruvate carboxylase deficiency)
  • 312170 (Pyruvate dehydrogenase deficiency)
  • 246900 (Dihydrolipoamide Dehydrogenase Deficiency)
  • 616483 (Infantile Liver Failure Syndrome 2)
  • 500001 (Leber Optic Atrophy and Dystonia)
  • 220111 (Leigh Syndrome, French Canadian Type)
  • 616299 (Lipoyltransferase 1 Deficiency)
  • 500009 (Mitochondrial Myopathy, Infantile, Transient)
  • 557000 (Pearson Syndrome)
  • 261680 (Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic)
  • 167320 (Dementia)
  • 220110 (Cytochrome C oxidase deficiency)
  • 616034 (2,4-dienoyl-CoA reductase deficiency)
  • 607426 (Coenzyme Q10 deficiency, primary, 1)
  • 612073 (Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2)
  • 114500 (Colorectal cancer)
  • 266600 (Crohn's disease)
  • 104300 (Alzheimer's disease)
  • 600274 (Frontotemporal dementia)
  • 601313 (Autosomal dominant polycystic kidney disease)
  • 610247 (Eosinophilic esophagitis)
  • 606054 (Propionic acidemia)
  • 607196 (Amish lethal microcephaly)
  • 614739 (3-Methylglutaconic Aciduria type VI)
  • 610198 (3-Methylglutaconic Aciduria type V)
  • 229600 (Fructose intolerance, hereditary)
  • 220500 (Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome)
DrugBank IDDB03066
Phenol Explorer Compound IDNot Available
FoodDB IDFDB003293
KNApSAcK IDC00019549
Chemspider ID55423
KEGG Compound IDC00256
BioCyc IDD-LACTATE
BiGG ID34414
Wikipedia LinkLactic_acid
METLIN ID6150
PubChem Compound61503
PDB IDLAC
ChEBI ID42111
References
Synthesis ReferenceLao, Hanzhang; Sun, Jianrong; Wang, Jian; Qian, Zhiliang. Process for preparation of high-purity L-lactic acid. Faming Zhuanli Shenqing Gongkai Shuomingshu (2007), 9pp.
Material Safety Data Sheet (MSDS)Download (PDF)
General References
  1. Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL: Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993;16(4):648-69. [PubMed:8412012 ]
  2. Silwood CJ, Lynch E, Claxson AW, Grootveld MC: 1H and (13)C NMR spectroscopic analysis of human saliva. J Dent Res. 2002 Jun;81(6):422-7. [PubMed:12097436 ]
  3. Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25. [PubMed:15627241 ]
  4. Commodari F, Arnold DL, Sanctuary BC, Shoubridge EA: 1H NMR characterization of normal human cerebrospinal fluid and the detection of methylmalonic acid in a vitamin B12 deficient patient. NMR Biomed. 1991 Aug;4(4):192-200. [PubMed:1931558 ]
  5. Nakayama Y, Kinoshita A, Tomita M: Dynamic simulation of red blood cell metabolism and its application to the analysis of a pathological condition. Theor Biol Med Model. 2005 May 9;2:18. [PubMed:15882454 ]
  6. Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed:8579834 ]
  7. Nicholson JK, Buckingham MJ, Sadler PJ: High resolution 1H n.m.r. studies of vertebrate blood and plasma. Biochem J. 1983 Jun 1;211(3):605-15. [PubMed:6411064 ]
  8. Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed:9693263 ]
  9. Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed:9625050 ]
  10. Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed:7729054 ]
  11. Khan SA, Cox IJ, Hamilton G, Thomas HC, Taylor-Robinson SD: In vivo and in vitro nuclear magnetic resonance spectroscopy as a tool for investigating hepatobiliary disease: a review of H and P MRS applications. Liver Int. 2005 Apr;25(2):273-81. [PubMed:15780050 ]
  12. Kaya M, Moriwaki Y, Ka T, Inokuchi T, Yamamoto A, Takahashi S, Tsutsumi Z, Tsuzita J, Oku Y, Yamamoto T: Plasma concentrations and urinary excretion of purine bases (uric acid, hypoxanthine, and xanthine) and oxypurinol after rigorous exercise. Metabolism. 2006 Jan;55(1):103-7. [PubMed:16324927 ]
  13. Nielsen J, Ytrebo LM, Borud O: Lactate and pyruvate concentrations in capillary blood from newborns. Acta Paediatr. 1994 Sep;83(9):920-2. [PubMed:7819686 ]
  14. Isotalo T, Talja M, Hellstrom P, Perttila I, Valimaa T, Tormala P, Tammela TL: A double-blind, randomized, placebo-controlled pilot study to investigate the effects of finasteride combined with a biodegradable self-reinforced poly L-lactic acid spiral stent in patients with urinary retention caused by bladder outlet obstruction from benign prostatic hyperplasia. BJU Int. 2001 Jul;88(1):30-4. [PubMed:11446841 ]
  15. Shirai Y, Kamimura K, Seki T, Morohashi M: L-lactic acid as a mosquito (Diptera: Culicidae) repellent on human and mouse skin. J Med Entomol. 2001 Jan;38(1):51-4. [PubMed:11268691 ]
  16. Valenza F, Aletti G, Fossali T, Chevallard G, Sacconi F, Irace M, Gattinoni L: Lactate as a marker of energy failure in critically ill patients: hypothesis. Crit Care. 2005;9(6):588-93. Epub 2005 Sep 28. [PubMed:16356243 ]
  17. Walenta S, Schroeder T, Mueller-Klieser W: Lactate in solid malignant tumors: potential basis of a metabolic classification in clinical oncology. Curr Med Chem. 2004 Aug;11(16):2195-204. [PubMed:15279558 ]
  18. Choi SY, Collins CC, Gout PW, Wang Y: Cancer-generated lactic acid: a regulatory, immunosuppressive metabolite? J Pathol. 2013 Aug;230(4):350-5. doi: 10.1002/path.4218. [PubMed:23729358 ]
  19. Hirschhaeuser F, Sattler UG, Mueller-Klieser W: Lactate: a metabolic key player in cancer. Cancer Res. 2011 Nov 15;71(22):6921-5. doi: 10.1158/0008-5472.CAN-11-1457. [PubMed:22084445 ]

Enzymes

General function:
Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
Specific function:
Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed.
Gene Name:
LDHAL6A
Uniprot ID:
Q6ZMR3
Molecular weight:
36507.015
Reactions
L-Lactic acid + NAD → Pyruvic acid + NADHdetails
L-Lactic acid + NAD → Pyruvic acid + NADH + Hydrogen Iondetails
General function:
Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
Specific function:
Not Available
Gene Name:
LDHB
Uniprot ID:
P07195
Molecular weight:
36638.225
Reactions
L-Lactic acid + NAD → Pyruvic acid + NADHdetails
L-Lactic acid + NAD → Pyruvic acid + NADH + Hydrogen Iondetails
General function:
Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
Specific function:
Possible role in sperm motility.
Gene Name:
LDHC
Uniprot ID:
P07864
Molecular weight:
36310.965
Reactions
L-Lactic acid + NAD → Pyruvic acid + NADHdetails
L-Lactic acid + NAD → Pyruvic acid + NADH + Hydrogen Iondetails
General function:
Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
Specific function:
Not Available
Gene Name:
LDHA
Uniprot ID:
P00338
Molecular weight:
30204.975
Reactions
L-Lactic acid + NAD → Pyruvic acid + NADHdetails
L-Lactic acid + NAD → Pyruvic acid + NADH + Hydrogen Iondetails
General function:
Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
Specific function:
Not Available
Gene Name:
LDHAL6B
Uniprot ID:
Q9BYZ2
Molecular weight:
41942.53
Reactions
L-Lactic acid + NAD → Pyruvic acid + NADHdetails
L-Lactic acid + NAD → Pyruvic acid + NADH + Hydrogen Iondetails