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 20:40:09 UTC
HMDB IDHMDB0000122
Secondary Accession Numbers
  • HMDB0006564
  • HMDB00122
  • HMDB06564
Metabolite Identification
Common NameD-Glucose
DescriptionGlucose is a monosaccharide containing six carbon atoms and an aldehyde group and is therefore referred to as an aldohexose. The glucose molecule can exist in an open-chain (acyclic) and ring (cyclic) form, the latter being the result of an intramolecular reaction between the aldehyde C atom and the C-5 hydroxyl group to form an intramolecular hemiacetal. In water solution both forms are in equilibrium and at pH 7 the cyclic one is the predominant. Glucose is a primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. In animals glucose arises from the breakdown of glycogen in a process known as glycogenolysis. Glucose is synthesized in the liver and kidneys from non-carbohydrate intermediates, such as pyruvate and glycerol, by a process known as gluconeogenesis. D-Glucose is found to be associated with 3-methyl-crotonyl-glycinuria, growth hormone deficiency, and primary hypomagnesemia, which are inborn errors of metabolism.
Structure
Thumb
Synonyms
ValueSource
D-GLCChEBI
D-GLCPChEBI
DextroseChEBI
GLC-OHChEBI
GlucoseChEBI
Grape sugarChEBI
Roferose STHMDB
(+)-GlucoseHMDB
Anhydrous dextroseHMDB
CereloseHMDB
Cerelose 2001HMDB
Clearsweet 95HMDB
Clintose LHMDB
Corn sugarHMDB
CPC HydrateHMDB
D(+)-GlucoseHMDB
DextropurHMDB
DextrosolHMDB
GlucodinHMDB
GlucolinHMDB
GoldsugarHMDB
MeritoseHMDB
Staleydex 111HMDB
Staleydex 95mHMDB
Tabfine 097(HS)HMDB
VadexHMDB
D GlucoseMeSH
Glucose, (DL)-isomerMeSH
Glucose, (L)-isomerMeSH
Glucose, (beta-D)-isomerMeSH
Glucose monohydrateMeSH
Glucose, (alpha-D)-isomerMeSH
L GlucoseMeSH
L-GlucoseMeSH
Dextrose, anhydrousMeSH
Monohydrate, glucoseMeSH
Chemical FormulaC6H12O6
Average Molecular Weight180.1559
Monoisotopic Molecular Weight180.063388116
IUPAC Name(3R,4S,5S,6R)-6-(hydroxymethyl)oxane-2,3,4,5-tetrol
Traditional Nameglucose
CAS Registry Number50-99-7
SMILES
OC[C@H]1OC(O)[C@H](O)[C@@H](O)[C@@H]1O
InChI Identifier
InChI=1S/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6?/m1/s1
InChI KeyWQZGKKKJIJFFOK-GASJEMHNSA-N
Chemical Taxonomy
DescriptionThis compound belongs to the class of organic compounds known as hexoses. These are monosaccharides in which the sugar unit is a is a six-carbon containing moeity.
KingdomOrganic compounds
Super ClassOrganic oxygen compounds
ClassOrganooxygen compounds
Sub ClassCarbohydrates and carbohydrate conjugates
Direct ParentHexoses
Alternative Parents
Substituents
  • Hexose monosaccharide
  • Oxane
  • Secondary alcohol
  • Hemiacetal
  • Oxacycle
  • Organoheterocyclic compound
  • Polyol
  • Hydrocarbon derivative
  • Primary alcohol
  • Alcohol
  • Aliphatic heteromonocyclic compound
Molecular FrameworkAliphatic heteromonocyclic compounds
External Descriptors
Ontology
Physiological effect

Health effect:

Disposition

Route of exposure:

Source:

Biological location:

Process

Naturally occurring process:

Role

Industrial application:

Biological role:

Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting Point146 - 150 °CNot Available
Boiling PointNot AvailableNot Available
Water Solubility1200 mg/mLNot Available
LogP-3.24SANGSTER (1994)
Predicted Properties
PropertyValueSource
Water Solubility782 g/LALOGPS
logP-2.6ALOGPS
logP-2.9ChemAxon
logS0.64ALOGPS
pKa (Strongest Acidic)11.3ChemAxon
pKa (Strongest Basic)-3ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count6ChemAxon
Hydrogen Donor Count5ChemAxon
Polar Surface Area110.38 ŲChemAxon
Rotatable Bond Count1ChemAxon
Refractivity35.92 m³·mol⁻¹ChemAxon
Polarizability16.09 ųChemAxon
Number of Rings1ChemAxon
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) (5 TMS)splash10-00kb-1931000000-ec21c3af97621f7bf95aView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (5 TMS)splash10-0fr2-1920000000-f53c5f0d5ad84d32679fView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (5 TMS; 1 MEOX)splash10-00di-9821000000-dbc697213e3b7cc9d4feView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (5 TMS; 1 MEOX)splash10-00di-9621000000-9d1d8057758d3da8cacaView in MoNA
GC-MSGC-MS Spectrum - GC-MS (4 TMS)splash10-014i-2490000000-3ed4c4fd34c05bad95f7View in MoNA
GC-MSGC-MS Spectrum - GC-MS (1 MEOX; 5 TMS)splash10-066r-1952000000-3378cb724e551e8b0267View in MoNA
GC-MSGC-MS Spectrum - GC-MS (5 TMS)splash10-0udl-0690000000-c8fda4276ff69235f30dView in MoNA
GC-MSGC-MS Spectrum - GC-MS (1 MEOX; 5 TMS)splash10-0ldi-1942000000-5d531ed23a4e82023d1cView in MoNA
GC-MSGC-MS Spectrum - GC-MS (5 TMS)splash10-0udi-0790000000-7ebe75cd633c58d761faView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00kb-1931000000-ec21c3af97621f7bf95aView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-0fr2-1920000000-f53c5f0d5ad84d32679fView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-9821000000-dbc697213e3b7cc9d4feView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-9621000000-9d1d8057758d3da8cacaView in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-014i-2490000000-3ed4c4fd34c05bad95f7View in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-066r-1952000000-3378cb724e551e8b0267View in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-0udl-0690000000-c8fda4276ff69235f30dView in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-0ldi-1942000000-5d531ed23a4e82023d1cView in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-0udi-0790000000-7ebe75cd633c58d761faView in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0np0-9700000000-e8d638dc817e46b97d7bView in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (5 TMS) - 70eV, Positivesplash10-004i-6122690000-eaf6f7adf34ccd0c667bView in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, N/A (Annotated)splash10-0002-9300000000-839f41cf94a071fcdb37View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 25V, N/A (Annotated)splash10-0002-9000000000-807f75d14f3d0b66f5bdView in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 40V, N/A (Annotated)splash10-000t-9000000000-b89668f86992a8363664View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 10V, Negativesplash10-000i-7900000000-9a673c2e4b82ca397421View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 20V, Negativesplash10-0a4r-9100000000-b70415588e768ddce5efView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 30V, Negativesplash10-0a4i-9000000000-73dc84dd88d8ae69fe02View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 40V, Negativesplash10-0a4i-9000000000-ba39d4ed9431a1d01eabView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 50V, Negativesplash10-0a4i-9000000000-a61efd1469735758b317View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ , negativesplash10-000i-7900000000-9a673c2e4b82ca397421View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ , negativesplash10-0a4r-9100000000-9c25b149885d8a48aab5View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ , negativesplash10-0a4i-9000000000-76d92ea96364c24ecfb0View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ , negativesplash10-0a4i-9000000000-ba39d4ed9431a1d01eabView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ , negativesplash10-0a4i-9000000000-a61efd1469735758b317View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-01q9-0900000000-b0bc47623e7b2ca31c02View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-03ea-3900000000-648e1637af29cf2a3518View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0007-9200000000-9e6f46a1cbf52d6e347aView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-004i-2900000000-a4ec4f0b1e29e360a952View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-01t9-6900000000-7b3ea9c64ecc8d4ac867View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-052f-9100000000-ec2bf4918640a0a36398View in MoNA
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR13C NMR SpectrumNot AvailableView in JSpectraViewer
2D NMR[1H,13C] 2D NMR SpectrumNot AvailableView in JSpectraViewer
Biological Properties
Cellular Locations
  • Extracellular
  • Lysosome
  • Endoplasmic reticulum
  • Golgi apparatus
Biospecimen Locations
  • Blood
  • Breast Milk
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Sweat
  • Urine
Tissue Location
  • Adipose Tissue
  • Adrenal Cortex
  • Adrenal Gland
  • Adrenal Medulla
  • Beta Cell
  • Bladder
  • Brain
  • Brain Plaques
  • Epidermis
  • Eye Lens
  • Fetus
  • Fibroblasts
  • Gonads
  • Gut
  • Intestine
  • Kidney
  • Liver
  • Lung
  • Mouth
  • Muscle
  • Myelin
  • Nerve Cells
  • Neuron
  • Pancreas
  • Placenta
  • Prostate
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified3100-5600 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified3890-5550 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified4860 (4670-5190) uMAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified3300-6900 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified5000 +/- 600 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified4200-6300 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified3500-6000 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified5350.0 +/- 120.0 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified5400.0 (4700.0 - 6100.0) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified3300-5600 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified3885.524-6105.823 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified4163.0610-6383.360 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected and Quantified<5994.808 uMAdult (>18 years old)Not SpecifiedNormal details
BloodDetected and Quantified2800-5000 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified3885.524-6105.823 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified5181.0 +/- 394.0 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified4380 +/-275 uMChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified4500 +/- 1000 uMAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified4894.19(1723.06) uMAdult (>18 years old)BothNormal details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified4000.0-6000.0 uMAdult (>18 years old)Both
Normal
details
BloodDetected but not Quantified Adult (>18 years old)Both
Normal
details
BloodDetected and Quantified4823.600 +/- 249.784 uMChildren (1-13 years old)Both
Normal
details
BloodDetected and Quantified5300.0 (4900.0 - 5700.0) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified4695.933 +/- 327.494 uMChildren (1-13 years old)Both
Normal
details
BloodDetected and Quantified4750.0 +/- 184.0 uMNewborn (0-30 days old)BothNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified2200.0 (1100.0 - 3300.0) uMNewborn (0-30 days old)BothNormal
    • Wu AHB (2006) Tie...
details
BloodDetected and Quantified4440.0 +/- 370.0 uMAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified4570.0 +/- 411.0 uMAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified2750.0 (2200.0-3300.0) uMNewborn (0-30 days old)BothNormal
    • Wu AHB (2006) Tie...
details
BloodDetected and Quantified4470.0 +/- 346.0 uMAdult (>18 years old)FemaleNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified4450.0 (3300.0 - 5600.0) uMChildren (1-13 years old)BothNormal
    • Wu AHB (2006) Tie...
details
BloodDetected and Quantified5450.0 (4200.0 - 6700.0) uMElderly (>65 years old)BothNormal
    • Wu AHB (2006) Tie...
details
BloodDetected and Quantified3500-7000 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected and Quantified4971.3 +/- 372.8 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified4440.0 +/- 100.0 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified4470.0 +/- 110.0 uMAdult (>18 years old)Both
Normal
details
Breast MilkDetected and Quantified1500 +/- 530 uMAdult (>18 years old)Female
Normal
details
Breast MilkDetected and Quantified4500.0+/- 100.0 uMAdult (>18 years old)FemaleNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified2500-4000 uMChildren (1-13 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified2960 +/- 1110 uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified2775.374-3885.524 uMInfant (0-1 year old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified5390.0 +/- 1650.0 uMAdult (>18 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified1720.0 (1560.0-1880.0) uMAdult (>18 years old)BothNormal details
FecesDetected but not Quantified Infant (0-1 year old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Not Specified
Normal
details
FecesDetected and Quantified743 nmol/g wet fecesAdult (>18 years old)Not Specified
Normal
details
FecesDetected and Quantified18271 nmol/g wet fecesAdult (>18 years old)Not Specified
Normal
details
FecesDetected and Quantified9717 nmol/g wet fecesAdult (>18 years old)Not Specified
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Not SpecifiedNormal details
FecesDetected but not Quantified Adult (>18 years old)BothNormal 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 Not SpecifiedNot Specified
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
SalivaDetected and Quantified20 (<1-914) uMAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified197 (<1-10764) uMAdult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected and Quantified247 (<1-6510) uMAdult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected and Quantified90 (<1-1994) uMAdult (>18 years old)Female
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 Quantified817.300 +/- 1070.700 uMAdult (>18 years old)BothNormal
    • Zerihun T. Dame, ...
details
SalivaDetected and Quantified1-2762 uMAdult (>18 years old)Male
normal
details
SalivaDetected and Quantified4-389 uMAdult (>18 years old)Male
normal
details
SalivaDetected and Quantified355.05 +/- 260.74 uMAdult (>18 years old)BothNormal
    • Zerihun T. Dame, ...
details
SalivaDetected and Quantified>10 uMAdult (>18 years old)BothNormal details
SweatDetected and Quantified230-300 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 Quantified35.6 (10.3-56.7) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected but not Quantified Adult (>18 years old)MaleNormal details
UrineDetected and Quantified15.0 (0.0-50.0) umol/mmol creatinineNewborn (0-30 days old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified9.0 (0.0-19.0) umol/mmol creatinineAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
UrineDetected but not Quantified Adult (>18 years old)BothNormal details
UrineDetected and Quantified16.66-111.07 umol/mmol creatinineAdult (>18 years old)BothNormal
    • David F. Putnam C...
details
UrineDetected and Quantified37.5 (12.5-58.4) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified31.12 umol/mmol creatinineAdult (>18 years old)MaleNormal
    • Shaykhutdinov RA,...
details
UrineDetected but not Quantified Adult (>18 years old)Both
Normal
details
UrineDetected but not Quantified Adult (>18 years old)Both
Normal
details
UrineDetected and Quantified7.0 (0.0-15.0) umol/mmol creatinineInfant (0-1 year old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified25.8 +/- 13.82 umol/mmol creatinineAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified143.14 +/- 399.78 umol/mmol creatinineInfant (0-1 year old)FemaleNormal details
UrineDetected and Quantified31.598 +/- 15.976 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified>11100 uMAdult (>18 years old)Both
Diabetes mellitus
    • World Health Orga...
details
BloodDetected and Quantified1000-4100 uMChildren (1-13 years old)Male3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency details
BloodDetected and Quantified>7000 uMAdult (>18 years old)Both
Diabetes mellitus
    • World Health Orga...
details
BloodDetected and Quantified2800 uMNewborn (0-30 days old)Male
2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)
details
BloodDetected and Quantified5828.285-15264.557 uMAdult (>18 years old)Female
21-hydroxylase deficiency
details
BloodDetected and Quantified2997.404 uMAdolescent (13-18 years old)Female
3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
details
BloodDetected and Quantified3743 +/- 1272.9 uMAdult (>18 years old)BothHeart Transplant details
BloodDetected and Quantified3108.419 uMAdult (>18 years old)Male
3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
details
BloodDetected and Quantified2053.777-2220.299 uMChildren (1-13 years old)Both
3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
details
BloodDetected and Quantified3890 uMInfant (0-1 year old)Male3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency details
BloodDetected and Quantified2164.792-2553.344 uMInfant (0-1 year old)Female
3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
details
BloodDetected and Quantified1300-1400 uMInfant (0-1 year old)Female
3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
details
BloodDetected and Quantified<2600 uMInfant (0-1 year old)Not Specified
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
details
BloodDetected and Quantified2164.792 uMChildren (1-13 years old)Female
Fanconi Bickel syndrome
    • Late Diagnosis of...
details
BloodDetected and Quantified42460 uMInfant (0-1 year old)FemaleWolcott-Rallison syndrome
    • Neonatal diabetes...
details
BloodDetected and Quantified6150 (5000-10090) uMAdult (>18 years old)BothLipodystrophy details
BloodDetected and Quantified7830 (5220-10890) uMAdult (>18 years old)BothLipodystrophy, Congenital Generalized details
BloodDetected and Quantified390 uMInfant (0-1 year old)FemaleLong-chain Fatty Acids, Defect in Transport of details
BloodDetected and Quantified400 uMInfant (0-1 year old)FemaleInfantile Liver Failure Syndrome 2 details
BloodDetected and Quantified5060 (4670-6560) uMAdult (>18 years old)BothPartial lipodystrophy details
BloodDetected and Quantified900 uMNewborn (0-30 days old)FemalePhosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic details
BloodDetected and Quantified800-3200 uMChildren (1-13 years old)BothPhosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic details
BloodDetected and Quantified2800 uMChildren (1-13 years old)MalePhosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic details
BloodDetected and Quantified4133.0 +/- 903.7 uMAdult (>18 years old)Female
Pregnancy with fetuses with trisomy 18
details
BloodDetected and Quantified3848.99 +/- 783.5 uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified1110.15 uMInfant (0-1 year old)Female
Fructose-1,6-bisphosphatase deficiency
details
BloodDetected and Quantified1665.224-2775.374 uMInfant (0-1 year old)Female
Hypoglycemia, familial neonatal
details
BloodDetected and Quantified2553.344 uMInfant (0-1 year old)MaleLeigh Syndrome details
BloodDetected and Quantified4194.1 (1229.6) uMAdult (>18 years old)FemaleEarly preeclampsia details
BloodDetected and Quantified3702.2 (713.5) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified5500.0 +/- 160.0 uMAdult (>18 years old)Both
Growth hormone deficiency
details
BloodDetected and Quantified900-2200 uMInfant (0-1 year old)Both
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
details
BloodDetected and Quantified6000.0 (5000.0 - 6800.0) uMAdult (>18 years old)BothAcute myelogenous leukemia (AML) details
BloodDetected and Quantified200-2200 uMNewborn (0-30 days old)Both3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified2100-2700 uMInfant (0-1 year old)Male3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) details
BloodDetected and Quantified2220.299 uMInfant (0-1 year old)Female
Fructose-1,6-bisphosphatase deficiency
details
BloodDetected and Quantified1665.224 uMChildren (1-13 years old)FemaleMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration details
BloodDetected and Quantified166.522 uMNewborn (0-30 days old)Male3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified1332.180-9436.272 uMNewborn (0-30 days old)MaleDonohue Syndrome details
BloodDetected and Quantified444.0598-555.0748 uMChildren (1-13 years old)FemaleFructose-1,6-bisphosphatase deficiency details
BloodDetected and Quantified4329.583 uMInfant (0-1 year old)FemaleLeptin Deficiency or Dysfunction details
BloodDetected and Quantified943.627 uMInfant (0-1 year old)FemaleMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration details
BloodDetected and Quantified1909.457 +/- 233.131 uMInfant (0-1 year old)Male
Glucagon deficiency
details
BloodDetected and Quantified4995.673-5106.688 uMAdult (>18 years old)Male
Primary Hypomagnesemia
details
BloodDetected and Quantified2775.374-10213.376 uMAdult (>18 years old)FemaleProprotein Convertase 1/3 Deficiency details
BloodDetected and Quantified2300 uMInfant (0-1 year old)Female
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
details
BloodDetected and Quantified5114.0 +/- 483.0 uMAdult (>18 years old)BothHyperlipidaemia details
BloodDetected and Quantified3241.19 (898.95) uMAdult (>18 years old)FemalePregnancy with fetus having congenital heart defect details
BloodDetected and Quantified3171.93 (754.22) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified800-1600 uMNewborn (0-30 days old)Both
3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
details
BloodDetected and Quantified9300 +/- 5000 uMAdult (>18 years old)Both
Diabetes and Deafness, Maternally Inherited
details
BloodDetected and Quantified<2600 uMNewborn (0-30 days old)BothBeckwith-Wiedemann Syndrome details
BloodDetected and Quantified4312.9 (1783.0) uMAdult (>18 years old)FemaleLate-onset preeclampsia details
BloodDetected and Quantified6300 +/- 2000 uMAdult (>18 years old)BothDiabetes and Deafness, Maternally Inherited details
BloodDetected and Quantified3362.4 (765.9) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified6810 (5210-10250) uMAdult (>18 years old)BothFamilial partial lipodystrophy details
BloodDetected and Quantified5535.11(1872.49) uMAdult (>18 years old)BothHeart failure with preserved ejection fraction details
BloodDetected and Quantified500-5200 uMChildren (1-13 years old)BothInfantile Liver Failure Syndrome 2 details
BloodDetected and Quantified2200 uMNewborn (0-30 days old)Male
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
details
BloodDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
BloodDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
BloodDetected and Quantified4812.499 +/- 288.639 uMChildren (1-13 years old)Both
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
details
BloodDetected and Quantified5112.239 +/- 427.408 uMChildren (1-13 years old)Both
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
details
BloodDetected and Quantified4235.221 +/- 55.507 uMChildren (1-13 years old)Both
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
details
BloodDetected and Quantified4390.642 +/- 316.393 uMChildren (1-13 years old)Both
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
details
BloodDetected and Quantified5600-7600 uMAdult (>18 years old)Both
Maturity onset diabetes of the young, type 2
details
BloodDetected and Quantified1750.00 (500.00-3000.00) uMChildren (1-13 years old)BothHypoadrenocorticism
    • MetaGene: Metabol...
details
BloodDetected and Quantified1940 +/- 570 uMChildren (1-13 years old)Both
Hyperinsulinemic hypoglycemia, familial, 1, HHF1
details
BloodDetected and Quantified1900 +/- 700 uMChildren (1-13 years old)Both
Hyperinsulinemic hypoglycemia, familial, 1, HHF1
details
BloodDetected and Quantified600-1000 uMNewborn (0-30 days old)BothHyperinsulinemic hypoglycemia, familial, 1, HHF1 details
BloodDetected and Quantified700-2600 uMInfant (0-1 year old)Not SpecifiedMitochondrial trifunctional protein deficiency details
BloodDetected and Quantified1500 uMChildren (1-13 years old)MaleCarnitine palmitoyltransferase deficiency I details
BloodDetected and Quantified2800 uMChildren (1-13 years old)Male
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
details
BloodDetected and Quantified<100 uMNewborn (0-30 days old)MaleCarnitine palmitoyltransferase deficiency I details
BloodDetected and Quantified390 uMInfant (0-1 year old)FemaleCarnitine transporter defect; primary systemic carnitine deficiency details
BloodDetected and Quantified245.5 (96.0) uMAdult (>18 years old)FemaleDown syndrome pregnancy details
BloodDetected and Quantified217.3 (73.8) uMAdult (>18 years old)FemalePregnancy details
BloodDetected and Quantified333.0449 uMNewborn (0-30 days old)Female
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
details
BloodDetected and Quantified555.0748 uMNewborn (0-30 days old)Female
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
details
BloodDetected and Quantified4400.0 (3300.0-5500.0) uMAdult (>18 years old)Both3-methyl-crotonyl-glycinuria
    • MetaGene: Metabol...
details
BloodDetected and Quantified1750.0 (500.0-3000.0) uMChildren (1-13 years old)Both3-Methyl-crotonyl-glycinuria
    • MetaGene: Metabol...
details
Cerebrospinal Fluid (CSF)Detected and Quantified1837.260 +/- 271.980 uMChildren (1-13 years old)BothGlucose transporter type 1 deficiency syndrome details
Cerebrospinal Fluid (CSF)Detected and Quantified200 uMInfant (0-1 year old)FemaleLong-chain Fatty Acids, Defect in Transport of details
Cerebrospinal Fluid (CSF)Detected and Quantified2053.777 uMInfant (0-1 year old)MaleLeigh Syndrome details
Cerebrospinal Fluid (CSF)Detected and Quantified3700.0 (3200.0-4200.0) uMAdult (>18 years old)BothAlzheimer's disease details
Cerebrospinal Fluid (CSF)Detected and Quantified200 uMInfant (0-1 year old)FemaleCarnitine transporter defect; primary systemic carnitine deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified1900 uMChildren (1-13 years old)FemaleGLUT1 deficiency syndrome details
FecesDetected but not Quantified Adult (>18 years old)BothImmunoglobulin A nephropathy (IgAN) progressor 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 Newborn (0-30 days old)Not Specified
Premature neonates
details
FecesDetected but not Quantified Adult (>18 years old)Not Specifiedasymptomatic diverticulosis details
FecesDetected but not Quantified Adult (>18 years old)Not Specifiedsymptomatic uncomplicated diverticular disease details
FecesDetected but not Quantified Adult (>18 years old)BothColorectal Cancer details
FecesDetected but not Quantified Adult (>18 years old)Both
Ulcerative colitis
details
FecesDetected but not Quantified Adult (>18 years old)BothColorectal Cancer details
UrineDetected and Quantified>5550.748 umol/mmol creatinineChildren (1-13 years old)FemaleFanconi Bickel syndrome
    • Late Diagnosis of...
details
UrineDetected and Quantified19700.0 umol/mmol creatinineAdult (>18 years old)BothDiabetes details
UrineDetected and Quantified79600.0 (68300.0-90900.0) umol/mmol creatinineAdult (>18 years old)Both
Diabetes
details
UrineDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
UrineDetected but not Quantified Adult (>18 years old)Both
Schizophrenia
details
UrineDetected and Quantified17,449.11 (137.28 – 129,930.33) umol/mmol creatinineAdult (>18 years old)BothType 1 diabetes Mellitus
    • Lorena Ivona ŞTEF...
details
UrineDetected and Quantified30.015 +/- 27.82 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
Associated Disorders and Diseases
Disease References
21-Hydroxylase deficiency
  1. Warinner SA, Zimmerman D, Thompson GB, Grant CS: Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy. World J Surg. 2000 Nov;24(11):1347-52. [PubMed:11038205 ]
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
  1. Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA: Severe Salt-Losing 3beta-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. J Clin Endocrinol Metab. 2015 Aug;100(8):E1105-15. doi: 10.1210/jc.2015-2098. Epub 2015 Jun 16. [PubMed:26079780 ]
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. Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pie J, Hoffmann GF, Hegardt FG, Mayatepek E: The diagnosis of mitochondrial HMG-CoA synthase deficiency. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. [PubMed:12072887 ]
  3. 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 ]
Acute myelogenous leukemia
  1. Tatidis L, Vitols S, Gruber A, Paul C, Axelson M: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. Cancer Lett. 2001 Sep 20;170(2):169-75. [PubMed:11463495 ]
Addison's Disease
  1. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Alzheimer's disease
  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 ]
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 ]
3-Methyl-crotonyl-glycinuria
  1. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Carnitine palmitoyltransferase I deficiency
  1. Olpin SE, Allen J, Bonham JR, Clark S, Clayton PT, Calvin J, Downing M, Ives K, Jones S, Manning NJ, Pollitt RJ, Standing SJ, Tanner MS: Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis. 2001 Feb;24(1):35-42. [PubMed:11286380 ]
Colorectal cancer
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]
Diabetes mellitus type 2
  1. Bales JR, Higham DP, Howe I, Nicholson JK, Sadler PJ: Use of high-resolution proton nuclear magnetic resonance spectroscopy for rapid multi-component analysis of urine. Clin Chem. 1984 Mar;30(3):426-32. [PubMed:6321058 ]
  2. Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed:6810706 ]
  3. (). World Health Organisation Department of Noncommunicable Disease Surveillance (1999). "Definition, Diagnosis and Classification of Diabetes Mellitus and its Complications". .
Diabetes mellitus type 1
  1. (). 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 ]
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 ]
  2. Baker L, Winegrad AI: Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet. 1970 Jul 4;2(7662):13-6. [PubMed:4193749 ]
Glucose transporter type 1 deficiency syndrome
  1. Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC: Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005 Jan;57(1):111-8. [PubMed:15622525 ]
  2. Koy A, Assmann B, Klepper J, Mayatepek E: Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. Dev Med Child Neurol. 2011 Dec;53(12):1154-6. doi: 10.1111/j.1469-8749.2011.04082.x. Epub 2011 Aug 12. [PubMed:21838819 ]
Growth hormone deficiency
  1. Darzy KH, Murray RD, Gleeson HK, Pezzoli SS, Thorner MO, Shalet SM: The impact of short-term fasting on the dynamics of 24-hour growth hormone (GH) secretion in patients with severe radiation-induced GH deficiency. J Clin Endocrinol Metab. 2006 Mar;91(3):987-94. Epub 2005 Dec 29. [PubMed:16384844 ]
Hyperlipoproteinemia
  1. Sinha S, Misra A, Kumar V, Jagannathan NR, Bal CS, Pandey RM, Singhania R, Deepak: Proton magnetic resonance spectroscopy and single photon emission computed tomography study of the brain in asymptomatic young hyperlipidaemic Asian Indians in North India show early abnormalities. Clin Endocrinol (Oxf). 2004 Aug;61(2):182-9. [PubMed:15272912 ]
Glucagon deficiency
  1. Vidnes J, Oyasaeter S: Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion. Pediatr Res. 1977 Sep;11(9 Pt 1):943-9. [PubMed:904979 ]
Primary hypomagnesemia
  1. Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M: Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. Intern Med. 1999 Mar;38(3):261-5. [PubMed:10337938 ]
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 ]
Diverticular disease
  1. Tursi A, Mastromarino P, Capobianco D, Elisei W, Miccheli A, Capuani G, Tomassini A, Campagna G, Picchio M, Giorgetti G, Fabiocchi F, Brandimarte G: Assessment of Fecal Microbiota and Fecal Metabolome in Symptomatic Uncomplicated Diverticular Disease of the Colon. J Clin Gastroenterol. 2016 Oct;50 Suppl 1:S9-S12. doi: 10.1097/MCG.0000000000000626. [PubMed:27622378 ]
Short/branched chain acyl-CoA dehydrogenase deficiency
  1. Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000 Jun;47(6):830-3. [PubMed:10832746 ]
Eosinophilic esophagitis
  1. (). Mordechai, Hien, and David S. Wishart. .
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
  1. Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL: Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8. [PubMed:18182448 ]
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 ]
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
  1. Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA: Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704. [PubMed:9337379 ]
  2. 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 ]
  3. 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. Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA: Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001 Mar;138(3):383-9. doi: 10.1067/mpd.2001.111818. [PubMed:11241047 ]
  2. Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001 Aug;108(3):457-65. [PubMed:11489939 ]
  3. Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O: Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 2004 Jan;53(1):221-7. [PubMed:14693719 ]
  4. 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 ]
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
  1. Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001 Aug;108(3):457-65. [PubMed:11489939 ]
Fanconi Bickel syndrome
  1. Nirupama Gupta, Bimota Nambam, David A. Weinstein, and Lawrence R. Shoemaker (2016). Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With the Diagnosis and Literature Review . Journal of Inborn Errors of Metabolism and Screening.
Beckwith-Wiedemann Syndrome
  1. Martinez y Martinez R, Martinez-Carboney R, Ocampo-Campos R, Rivera H, Gomez Plascencia y Castillo J, Cuevas A, Martin Manrique MC: Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases. Genet Couns. 1992;3(2):67-76. [PubMed:1642813 ]
Carnitine transporter defect; primary systemic carnitine deficiency
  1. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006. [PubMed:3185635 ]
Diabetes and Deafness, Maternally Inherited
  1. Velho G, Byrne MM, Clement K, Sturis J, Pueyo ME, Blanche H, Vionnet N, Fiet J, Passa P, Robert JJ, Polonsky KS, Froguel P: Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. Diabetes. 1996 Apr;45(4):478-87. [PubMed:8603770 ]
Donohue Syndrome
  1. Nijim Y, Awni Y, Adawi A, Bowirrat A: Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating. Medicine (Baltimore). 2016 Feb;95(6):e2710. doi: 10.1097/MD.0000000000002710. [PubMed:26871809 ]
Familial partial lipodystrophy
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Hyperinsulinemic hypoglycemia, familial, 1, HHF1
  1. Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C, Czernichow P, Saudubray JM: Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr. 1998 Aug;157(8):628-33. [PubMed:9727845 ]
  2. Horev Z, Ipp M, Levey P, Daneman D: Familial hyperinsulinism: successful conservative management. J Pediatr. 1991 Nov;119(5):717-20. [PubMed:1941376 ]
Hypoglycemia, familial neonatal
  1. COCHRANE WA, PAYNE WW, SIMPKISS MJ, WOOLF LI: Familial hypoglycemia precipitated by amino acids. J Clin Invest. 1956 Apr;35(4):411-22. doi: 10.1172/JCI103292. [PubMed:13306783 ]
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 ]
Leptin Deficiency or Dysfunction
  1. Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S: Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med. 1999 Sep 16;341(12):879-84. doi: 10.1056/NEJM199909163411204. [PubMed:10486419 ]
Lipodystrophy
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Lipodystrophy, Congenital Generalized
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Long-chain Fatty Acids, Defect in Transport of
  1. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006. [PubMed:3185635 ]
Maturity onset diabetes of the young, type 2
  1. Estalella I, Garcia-Gimeno MA, Marina A, Castano L, Sanz P: Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. J Hum Genet. 2008;53(5):460-6. doi: 10.1007/s10038-008-0271-5. Epub 2008 Mar 6. [PubMed:18322640 ]
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 ]
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 ]
Partial lipodystrophy
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
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 ]
Proprotein Convertase 1/3 Deficiency
  1. O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C: Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. N Engl J Med. 1995 Nov 23;333(21):1386-90. doi: 10.1056/NEJM199511233332104. [PubMed:7477119 ]
Wolcott-Rallison syndrome
  1. Can Thi Bich Ngoc, Vu Chi Dung, Sarah Flanagan and Sian Ellard (2013). Neonatal diabetes in Wolcott-Rallison syndrome: a case report. International Journal of Pediatric Endocrinology.
Ulcerative colitis
  1. Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M: Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Sci Rep. 2017 Aug 25;7(1):9473. doi: 10.1038/s41598-017-09958-9. [PubMed:28842642 ]
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 ]
Associated OMIM IDs
  • 139250 (Growth hormone deficiency)
  • 602439 (Acute myelogenous leukemia)
  • 238600 (Hyperlipoproteinemia)
  • 210200 (3-Methyl-crotonyl-glycinuria)
  • 240200 (Addison's Disease)
  • 248250 (Primary hypomagnesemia)
  • 246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • 605911 (3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency)
  • 610006 (Short/branched chain acyl-CoA dehydrogenase deficiency)
  • 201910 (21-Hydroxylase deficiency)
  • 231530 (3-Hydroxyacyl-CoA dehydrogenase deficiency)
  • 300438 (2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
  • 613743 (Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete)
  • 201810 (Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency)
  • 608594 (Lipodystrophy, Congenital Generalized)
  • 603376 (Long-chain Fatty Acids, Defect in Transport of)
  • 616483 (Infantile Liver Failure Syndrome 2)
  • 261680 (Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic)
  • 229700 (Fructose-1,6-diphosphatase deficiency)
  • 240800 (Hypoglycemia, familial neonatal)
  • 256000 (Leigh's syndrome, subacute necrotizing encephalopathy, SNE)
  • 616878 (Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration)
  • 246200 (Donohue Syndrome)
  • 614962 (Leptin Deficiency or Dysfunction)
  • 600955 (Proprotein Convertase 1/3 Deficiency)
  • 125851 (Maturity onset diabetes of the young, type 2)
  • 256450 (Hyperinsulinemic hypoglycemia, familial, 1, HHF1)
  • 609015 (Mitochondrial trifunctional protein deficiency)
  • 255120 (Carnitine palmitoyltransferase I deficiency)
  • 212140 (Carnitine transporter defect; primary systemic carnitine deficiency)
  • 520000 (Diabetes and Deafness, Maternally Inherited)
  • 130650 (Beckwith-Wiedemann Syndrome)
  • 608600 (Familial partial lipodystrophy)
  • 227810 (Fanconi Bickel syndrome)
  • 226980 (Wolcott-Rallison syndrome)
  • 104300 (Alzheimer's disease)
  • 606777 (Glucose transporter type 1 deficiency syndrome)
  • 114500 (Colorectal cancer)
  • 125853 (Diabetes mellitus type 2)
  • 222100 (Diabetes mellitus type 1)
  • 610247 (Eosinophilic esophagitis)
  • 181500 (Schizophrenia)
DrugBank IDDB09341
Phenol Explorer Compound IDNot Available
FoodDB IDFDB012530
KNApSAcK IDC00001122
Chemspider ID5589
KEGG Compound IDC00031
BioCyc IDD-Glucose
BiGG ID33582
Wikipedia LinkGlucose
METLIN ID133
PubChem Compound5793
PDB ID1A47
ChEBI ID4167
References
Synthesis ReferenceLi, Dalin; Ruan, Yi; Song, Wen; Wang, Yongjun. Improved process for producing glucose. Faming Zhuanli Shenqing Gongkai Shuomingshu (2003), 4 pp
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
  2. 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 ]
  3. 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 ]
  4. Bales JR, Higham DP, Howe I, Nicholson JK, Sadler PJ: Use of high-resolution proton nuclear magnetic resonance spectroscopy for rapid multi-component analysis of urine. Clin Chem. 1984 Mar;30(3):426-32. [PubMed:6321058 ]
  5. Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed:6810706 ]
  6. 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 ]
  7. Badiee P, Kordbacheh P, Alborzi A, Zeini F, Mirhendy H, Mahmoody M: Fungal infections in solid organ recipients. Exp Clin Transplant. 2005 Dec;3(2):385-9. [PubMed:16417449 ]
  8. Surdacki A, Nowicki M, Sandmann J, Tsikas D, Boeger RH, Bode-Boeger SM, Kruszelnicka-Kwiatkowska O, Kokot F, Dubiel JS, Froelich JC: Reduced urinary excretion of nitric oxide metabolites and increased plasma levels of asymmetric dimethylarginine in men with essential hypertension. J Cardiovasc Pharmacol. 1999 Apr;33(4):652-8. [PubMed:10218738 ]
  9. Zhao J, Wu LF: [Study of the causes of fetal growth restriction with unclear etiologies]. Zhonghua Fu Chan Ke Za Zhi. 2004 May;39(5):329-33. [PubMed:15196417 ]
  10. Flynn DM, Fairney A, Jackson D, Clayton BE: Hormonal changes in thalassaemia major. Arch Dis Child. 1976 Nov;51(11):828-36. [PubMed:1008588 ]
  11. Sokup A, Swiatkowski M, Tyloch M, Skublicki S, Szymanski W, Goralczyk K: [Insulin secretion at the diagnosis of gestational diabetes is lower in multiparas than in primiparas]. Ginekol Pol. 2006 Jan;77(1):4-9. [PubMed:16736954 ]
  12. Roberts E: The importance of being dehydroepiandrosterone sulfate (in the blood of primates): a longer and healthier life? Biochem Pharmacol. 1999 Feb 15;57(4):329-46. [PubMed:9933021 ]
  13. Kodama H, Okada S, Inui K, Yutaka T, Yabuuchi H: Studies on alpha-ketoglutaric aciduria in type I glycogenosis. Tohoku J Exp Med. 1980 Aug;131(4):347-53. [PubMed:6936873 ]
  14. Gollan JL, Huang SN, Billing B, Sherlock S: Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies. Gastroenterology. 1975 Jun;68(6):1543-55. [PubMed:805737 ]
  15. Hourd P, Edge JA, Dunger DB, Dalton N, Edwards R: Urinary growth hormone excretion during puberty in type 1 (insulin-dependent) diabetes mellitus. Diabet Med. 1991 Apr;8(3):237-42. [PubMed:1828739 ]
  16. Zebrower ME, Kieras FJ, Brown WT: Analysis by high-performance liquid chromatography of hyaluronic acid and chondroitin sulfates. Anal Biochem. 1986 Aug 15;157(1):93-9. [PubMed:3094400 ]
  17. Sakai T, Suzuki J, Marumo F, Kikawada R: A case of Fanconi syndrome with type 1 renal tubular acidosis. Jpn Circ J. 1981 Oct;45(10):1164-9. [PubMed:7299995 ]
  18. Rohdewald VP, Rehder J, Mollmann H, Barth J, Derendorf H: [Pharmacokinetics and pharmacodynamics of prednisolone following extremely high dosage as prednisolone hemisuccinate]. Arzneimittelforschung. 1987 Feb;37(2):194-8. [PubMed:3580023 ]
  19. Brodehl J, Oemar BS, Hoyer PF: Renal glucosuria. Pediatr Nephrol. 1987 Jul;1(3):502-8. [PubMed:3153324 ]
  20. KASER H, COTTIER P, ANTENER I: Glucoglycinuria, a new familial syndrome. J Pediatr. 1962 Sep;61:386-94. [PubMed:14454131 ]
  21. Harada H, Shimizu H, Maeiwa M: 1H-NMR of human saliva. An application of NMR spectroscopy in forensic science. Forensic Sci Int. 1987 Jul;34(3):189-95. [PubMed:3666622 ]

Only showing the first 10 proteins. There are 29 proteins in total.

Enzymes

General function:
Involved in ATP binding
Specific function:
Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage.
Gene Name:
GCK
Uniprot ID:
P35557
Molecular weight:
52191.07
Reactions
Adenosine triphosphate + D-Glucose → ADP + Glucose 6-phosphatedetails
General function:
Involved in ATP binding
Specific function:
Not Available
Gene Name:
HK3
Uniprot ID:
P52790
Molecular weight:
99024.56
Reactions
Adenosine triphosphate + D-Glucose → ADP + Glucose 6-phosphatedetails
General function:
Involved in ATP binding
Specific function:
Not Available
Gene Name:
HK2
Uniprot ID:
P52789
Molecular weight:
102379.06
Reactions
Adenosine triphosphate + D-Glucose → ADP + Glucose 6-phosphatedetails
General function:
Involved in ATP binding
Specific function:
Not Available
Gene Name:
HK1
Uniprot ID:
P19367
Molecular weight:
102485.1
Reactions
Adenosine triphosphate + D-Glucose → ADP + Glucose 6-phosphatedetails
General function:
Involved in catalytic activity
Specific function:
Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.
Gene Name:
SI
Uniprot ID:
P14410
Molecular weight:
Not Available
Reactions
Sucrose + Water → D-Fructose + D-Glucosedetails
Isomaltose + Water → Alpha-D-Glucose + D-Glucosedetails
Neohancoside D + Water → D-Fructose + D-Glucosedetails
General function:
Involved in hydrolase activity, hydrolyzing O-glycosyl compounds
Specific function:
LPH splits lactose in the small intestine.
Gene Name:
LCT
Uniprot ID:
P09848
Molecular weight:
218584.77
Reactions
beta-Lactose + Water → Beta-D-Galactose + D-Glucosedetails
Lactose + Water → D-Glucose + Beta-D-Galactosedetails
General function:
Involved in catalytic activity
Specific function:
Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins.
Gene Name:
GANAB
Uniprot ID:
Q14697
Molecular weight:
Not Available
Reactions
Water + → D-Glucose + details
Water + → D-Glucose + details
General function:
Involved in catalytic activity
Specific function:
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
Gene Name:
AGL
Uniprot ID:
P35573
Molecular weight:
Not Available
General function:
Involved in phosphotransferase activity, alcohol group as acceptor
Specific function:
Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity).
Gene Name:
ADPGK
Uniprot ID:
Q9BRR6
Molecular weight:
53960.185
Reactions
ADP + D-Glucose → Adenosine monophosphate + Glucose 6-phosphatedetails
General function:
Involved in transferase activity, transferring glycosyl groups
Specific function:
Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose.
Gene Name:
B4GALT2
Uniprot ID:
O60909
Molecular weight:
41971.815
Reactions
Uridine diphosphategalactose + D-Glucose → Uridine 5'-diphosphate + beta-Lactosedetails

Only showing the first 10 proteins. There are 29 proteins in total.