4392 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 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 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 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. (A3335, A3424, A3424, A3425). 52320-67-9 193872 C7H13NO3 White powder. No indication of carcinogenicity to humans (not listed by IARC). This is an endogenously produced metabolite found in the human body. It is used in metabolic reactions, catabolic reactions or waste generation. 2014-08-29T06:29:26Z 2026-04-06T11:34:12Z 240943 true CCC(C)C(=O)NCC(O)=O C7H13NO3 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) HOACIBQKYRHBOW-UHFFFAOYSA-N 159.183 159.089543287 Endogenous Solid HMDB00339 CHEMBL314835 168243 Korman, 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. CHEM003298 NS00121998 66.4 39.2496 16.5527710618262 4 3 2 4.166376353767786 -1.64156885582777 -1 0 0.41 -1.25 9.00e+00 g/l