04478

Supelco

N-(2-Methylbutyryl)glycine

analytical standard

Synonym(s):
N-(2-Methyl-1-oxobutyl)glycine, 2-Methylbutyryl glycine
Empirical Formula (Hill Notation):
C7H13NO3
CAS Number:
Molecular Weight:
159.18
Beilstein/REAXYS Number:
2206207
MDL number:
PubChem Substance ID:
NACRES:
NA.24
Pricing and availability is not currently available.

grade

analytical standard

Quality Level

assay

≥98.0% (HPLC)

shelf life

limited shelf life, expiry date on the label

format

neat

storage temp.

2-8°C

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 key

HOACIBQKYRHBOW-UHFFFAOYSA-N

Biochem/physiol Actions

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. The disorder is also called 2-methylbutyryl-CoA dehydrogenase deficiency 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 programs. 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. 2-Methylbutyrylglycine has also been found in the urine of patients with propionyl-CoA carboxylase deficiency after consuming isoleucine. 2-methylbutyrylglycine is also elevated in the urine of patients with glutaric aciduria II and ethylmalonic encephalopathy.

Pictograms

Exclamation mark

Signal Word

Warning

Hazard Statements

Precautionary Statements

RIDADR

NONH for all modes of transport

WGK Germany

WGK 3

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificate of Analysis
Certificate of Origin
Oivind J Kanavin et al.
Journal of medical case reports, 1, 98-98 (2007-09-22)
2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. We report a four-year-old mentally retarded Somali boy with autism and a history of seizures, who...
Stanley H Korman et al.
Clinical chemistry, 51(3), 610-617 (2004-12-24)
Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a recently identified defect in the proximal pathway of L-isoleucine oxidation. SBCADD might be underdiagnosed because detection and recognition of urine acylglycines is problematic. Excretion of...
L Sweetman et al.
Biomedical mass spectrometry, 5(3), 198-207 (1978-03-01)
A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an inherited deficiency of propionyl-CoA carboxylase. These included the isoleucine metabolites 2-methyl-3-hydroxybutyric acid and 2-methylacetoacetic acid. These isomers 3-hydroxyvaleric acid and...

Our team of scientists has experience in all areas of research including Life Science, Material Science, Chemical Synthesis, Chromatography, Analytical and many others.

Contact Technical Service

Social Media

LinkedIn icon
Twitter icon
Facebook Icon
Instagram Icon

MilliporeSigma

Research. Development. Production.

We are a leading supplier to the global Life Science industry with solutions and services for research, biotechnology development and production, and pharmaceutical drug therapy development and production.

© 2021 Merck KGaA, Darmstadt, Germany and/or its affiliates. All Rights Reserved.

Reproduction of any materials from the site is strictly forbidden without permission.