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Record Information
Version4.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2017-10-23 17:21:09 UTC
HMDB IDHMDB0000339
Secondary Accession Numbers
  • HMDB00339
Metabolite Identification
Common Name2-Methylbutyrylglycine
Description2-Methylbutyrylglycine is an acyl glycine. Acyl glycines are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Acyl glycines are produced through the action of glycine N-acyltransferase (EC 2.3.1.13) which is an enzyme that catalyzes the chemical reaction:. acyl-CoA + glycine < -- > CoA + N-acylglycine. The isolated excretion of high levels of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency or SBCADD (PMID:15615815 ). The disorder is also called 2-methylbutyryl-CoA dehydrogenase deficiency (PMID: 17883863 ) and has been associated with autism and mental retardation. SBCADD is a recently described autosomal recessive disorder caused by a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. The enzymatic defect results from disruption of the SBCAD gene. Deficiency of SBCAD leads to accumulation of its substrate, 2-methylbutyryl-CoA within the mitochondrion. This substance is transesterified with glycine by the mitochondrial enzyme acyl-CoA glycine-N-acyltransferase (glycine-N-acylase) to form 2-methylbutyryl glycine. Affected patients can be divided into two categories. The first category consists of infants detected by newborn screening programmes. These infants are treated with diet and remain without clinical symptoms. In the second category affected patients are diagnosed because they presented clinically with seizures and psychomotor delay and have increased urinary excretion of 2-methylbutyryl glycine (PMID: 17883863 ). 2-methylbutyrylglycine has also been found in the urine of patients with propionyl-CoA carboxylase deficiency after consuming isoleucine. (PMID: 630060 ). 2-methylbutyrylglycine is also elevated in the urine of patients with glutaric aciduria II and ethylmalonic encephalopathy.
Structure
Thumb
Synonyms
ValueSource
alpha-MethylbutyrylglycineChEBI
a-MethylbutyrylglycineGenerator
α-methylbutyrylglycineGenerator
(2-Methyl-butyrylamino)-acetateHMDB
(2-Methyl-butyrylamino)-acetic acidHMDB
2-MBGHMDB
2-Methylbutyryl glycineHMDB
N-(2-Methylbutyryl)glycineHMDB
N-Sec-valerylglycineHMDB
Chemical FormulaC7H13NO3
Average Molecular Weight159.183
Monoisotopic Molecular Weight159.089543287
IUPAC Name2-(2-methylbutanamido)acetic acid
Traditional Name2-methylbutyrylglycine
CAS Registry Number52320-67-9
SMILES
CCC(C)C(=O)NCC(O)=O
InChI Identifier
InChI=1S/C7H13NO3/c1-3-5(2)7(11)8-4-6(9)10/h5H,3-4H2,1-2H3,(H,8,11)(H,9,10)
InChI KeyHOACIBQKYRHBOW-UHFFFAOYSA-N
Chemical Taxonomy
DescriptionThis compound belongs to the class of chemical entities known as n-acyl-alpha amino acids. These are compounds containing an alpha amino acid which bears an acyl group at its terminal nitrogen atom.
KingdomChemical entities
Super ClassOrganic compounds
ClassOrganic acids and derivatives
Sub ClassCarboxylic acids and derivatives
Direct ParentN-acyl-alpha amino acids
Alternative Parents
Substituents
  • N-acyl-alpha-amino acid
  • Carboximidic acid
  • Carboximidic acid derivative
  • Carboxylic acid
  • Monocarboxylic acid or derivatives
  • Organic 1,3-dipolar compound
  • Propargyl-type 1,3-dipolar organic compound
  • Carbonyl group
  • Organooxygen compound
  • Organonitrogen compound
  • Hydrocarbon derivative
  • Organic oxide
  • Organopnictogen compound
  • Organic oxygen compound
  • Organic nitrogen compound
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Disposition

Biological Location:

  Subcellular:

  Biofluid and excreta:

Source:

Role

Indirect biological role:

Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility9 g/LALOGPS
logP0.41ALOGPS
logP0.36ChemAxon
logS-1.2ALOGPS
pKa (Strongest Acidic)4.17ChemAxon
pKa (Strongest Basic)-1ChemAxon
Physiological Charge-1ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area66.4 ŲChemAxon
Rotatable Bond Count4ChemAxon
Refractivity39.25 m³·mol⁻¹ChemAxon
Polarizability16.55 ųChemAxon
Number of Rings0ChemAxon
Bioavailability1ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectra
Spectra
Spectrum TypeDescriptionSplash Key
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0a4r-9200000000-037c365f69a94a2795e3View in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-00di-9100000000-e433d3dc8126ab0a8a11View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)splash10-0a70-9000000000-677b36115959d21d1f09View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 25V, Positive (Annotated)splash10-0a4i-9000000000-8acb9e6da8ae025a1f8dView in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 40V, Positive (Annotated)splash10-0a4l-9000000000-e9d59f38263024d831c0View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-03dr-5900000000-0b42996566d3baf8c66bView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-06ri-9400000000-711387fe57829069d6f3View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0a4i-9000000000-6fc57261ee60bbc3af11View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-0a4i-0900000000-1fa66530dedcfabf00e7View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-0a4i-2900000000-975416bc76e2d0f660c1View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0ab9-9000000000-d1bb15a1be690ed64b19View in MoNA
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
2D NMR[1H,13C] 2D NMR SpectrumNot AvailableView in JSpectraViewer
Biological Properties
Cellular Locations
  • Cytoplasm
Biofluid Locations
  • Urine
Tissue LocationNot Available
PathwaysNot Available
NameSMPDB/PathwhizKEGG
No entries found
Normal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
UrineDetected and Quantified0.0348–0.3643 umol/mmol creatinineAdult (25-30 years old)Both
Not Available
details
UrineDetected and Quantified0.0640–0.2252 umol/mmol creatinineAdult (25-30 years old)Both
Not Available
details
UrineDetected but not Quantified Adult (24-38years old)Not SpecifiedNormal details
UrineDetected but not Quantified Adult (>18 years old)BothNormal details
UrineDetected and Quantified2.0 (1.2-3.3) umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified0.0545–0.2619 umol/mmol creatinineAdult (25-30 years old)Both
Not Available
details
Abnormal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
UrineDetected but not Quantified Children (1-13 years old)BothShort/branched-chain acyl-CoA dehydrogenase deficiency details
UrineDetected and Quantified1.0 (0.00-2.0) umol/mmol creatinineAdult (>18 years old)BothEthylmalonic encephalopathy details
UrineDetected and Quantified3.5 (1.0-6.0) umol/mmol creatinineChildren (1-13 years old)BothEthylmalonic encephalopathy details
UrineDetected but not Quantified Adult (>18 years old)BothAutosomal dominant polycystic kidney disease (ADPKD) details
UrineDetected and Quantified100.00 (0.00-200.00) umol/mmol creatinineChildren (1-13 years old)BothGlutaric Aciduria II details
Associated Disorders and Diseases
Disease References
Glutaric acidemia type 2
    MetaGene
Ethylmalonic encephalopathy
    MetaGene
Associated OMIM IDs
DrugBank IDNot Available
DrugBank Metabolite IDNot Available
Phenol Explorer Compound IDNot Available
Phenol Explorer Metabolite IDNot Available
FoodDB IDFDB021963
KNApSAcK IDNot Available
Chemspider ID168243
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID5328
PubChem Compound193872
PDB IDNot Available
ChEBI ID240943
References
Synthesis ReferenceKorman, Stanley H.; Andresen, Brage S.; Zeharia, Avraham; Gutman, Alisa; Boneh, Avihu; Pitt, James J. 2-Ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clinical Chemistry (Washington, DC, United States) (2005), 51(3), 610-617.
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt JJ: 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clin Chem. 2005 Mar;51(3):610-7. Epub 2004 Dec 22. [PubMed:15615815 ]
  2. Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J: Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology. 1999 Jan 15;52(2):366-72. [PubMed:9932958 ]
  3. Sweetman L, Weyler W, Nyhan WL, de Cespedes C, Loria AR, Estrada Y: Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biomed Mass Spectrom. 1978 Mar;5(3):198-207. [PubMed:630060 ]
  4. Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P: 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. J Med Case Rep. 2007 Sep 20;1:98. [PubMed:17883863 ]

Enzymes

General function:
Involved in glycine N-acyltransferase activity
Specific function:
Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid.
Gene Name:
GLYAT
Uniprot ID:
Q6IB77
Molecular weight:
18506.33
General function:
Involved in glycine N-acyltransferase activity
Specific function:
Acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor.
Gene Name:
GLYATL1
Uniprot ID:
Q969I3
Molecular weight:
35100.895
General function:
Involved in glycine N-acyltransferase activity
Specific function:
Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine.
Gene Name:
GLYATL2
Uniprot ID:
Q8WU03
Molecular weight:
34277.055
General function:
Involved in glycine N-acyltransferase activity
Specific function:
Acyltransferase which transfers the acyl group to the N- terminus of glycine
Gene Name:
GLYATL3
Uniprot ID:
Q5SZD4
Molecular weight:
32703.3