2-Methylbutyrylglycine
2-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 reslits from disruption of the SBCAD gene. Deficiency of SBCAD leads to accumliation 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 for HMDB00339 (2-Methylbutyrylglycine)
C7H13NO3
159.183
159.089543287
2-(2-methylbutanamido)acetic acid
2-methylbutyrylglycine
52320-67-9
HOACIBQKYRHBOW-UHFFFAOYSA-N
This 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.
Chemical entities
Organic compounds
Organic acids and derivatives
Carboxylic acids and derivatives
N-acyl-alpha amino acids
Aliphatic acyclic compounds
Detected and Quantified
Not Available
Not Available
Solid
LC-MS/MS Spectrum – Quattro_QQQ 10V, Positive (Annotated)splash10-0a70-9000000000-677b36115959d21d1f09View in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 25V, Positive (Annotated)splash10-0a4i-9000000000-8acb9e6da8ae025a1f8dView in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 40V, Positive (Annotated)splash10-0a4l-9000000000-e9d59f38263024d831c0View in MoNA
1H NMR SpectrumNot Available
[1H,13C] 2D NMR SpectrumNot Available
Not Available
Not Available
- MetaGene [Link]
- MetaGene [Link]
Not Available
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FDB021963
Not Available
168243
Not Available
Not Available
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HMDB00339
HMDB00339
5328
193872
Not Available
240943
- 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 ]
- 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 ]
- 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 ]
- 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