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Chemical Compound Review

AGN-PC-00IWMC     2-[2-[3-[[4-[[[5-(6- aminopurin-9-yl)-4...

Synonyms: KST-1A9737, AR-1B9384, AC1L19MG, AC1Q5RP0
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Disease relevance of D-methylmalonyl-CoA


High impact information on D-methylmalonyl-CoA

  • These children have no evidence of a deficiency of vitamin B12, which acts as a cofactor with methylmalonyl-CoA mutase, and they did not respond to the administration of vitamin B12 [6].
  • Conversion of the chemical energy of methylmalonyl-CoA decarboxylation into a Na+ gradient [7].
  • Gene transfer of a functional methylmalonyl CoA mutase cDNA clone into mut fibroblasts reconstitutes holoenzyme activity measured by metabolism of [14C]-propionate in culture [8].
  • Exposure of rats to nitrous oxide rapidly inactivated the cytosol enzyme, methionine synthetase, but the mitochondrial enzyme, methylmalonyl CoA mutase, seemed to be unaffected, although both enzymes require vitamin B12 [9].
  • In the active site, the labile carboxylate group of methylmalonyl-CoA is stabilized by interaction with the N-termini of two alpha-helices [10].

Chemical compound and disease context of D-methylmalonyl-CoA


Biological context of D-methylmalonyl-CoA


Anatomical context of D-methylmalonyl-CoA


Associations of D-methylmalonyl-CoA with other chemical compounds


Gene context of D-methylmalonyl-CoA


Analytical, diagnostic and therapeutic context of D-methylmalonyl-CoA

  • We describe a novel method for differential diagnosis of mut and cbl methylmalonic aciduria using DNA-mediated gene transfer of a methylmalonyl CoA mutase cDNA clone [8].
  • We developed a radioimmunoassay to quantitate material crossreacting immunochemically with human methylmalonyl-CoA mutase (methylmalonyl-CoA CoA-carbonylmutase, EC, and have applied this assay to extracts of fibroblasts from controls and from 32 patients with methylmalonic acidemia due to inherited deficiencies in mutase activity [31].
  • In this study, we have used site-directed mutagenesis to create the H610A and H610N variants of methylmalonyl-CoA mutase and report that both mutations exhibit both diminished activity (5,000- and 40,000-fold, respectively) and profoundly weakened affinity for the native cofactor, AdoCbl [32].
  • Methylmalonyl-CoA mutase, one of two known cobalamin-dependent enzymes present in mammalian tissues, has been isolated from 2.5 kg of human placenta utilizing affinity chromatography on 5'-deoxyadenosylcobalamin-Sepharose as the major purification step [33].
  • 2. Under these conditions, methylmalonyl-CoA was incorporated into very long acids which were identified as mycocerosic acids by radio gas-liquid chromatography [5].


  1. Engineered biosynthesis of an ansamycin polyketide precursor in Escherichia coli. Watanabe, K., Rude, M.A., Walsh, C.T., Khosla, C. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  2. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. Drennan, C.L., Matthews, R.G., Rosenblatt, D.S., Ledley, F.D., Fenton, W.A., Ludwig, M.L. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  3. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. Narasimhan, P., Sklar, R., Murrell, M., Swanson, R.A., Sharp, F.R. J. Neurosci. (1996) [Pubmed]
  4. Sequence of the sodium ion pump methylmalonyl-CoA decarboxylase from Veillonella parvula. Huder, J.B., Dimroth, P. J. Biol. Chem. (1993) [Pubmed]
  5. Synthesis of mycocerosic acids from methylmalonyl coenzyme A by cell-free extracts of Mycobacterium tuberculosis var. bovis BCG. Rainwater, D.L., Kolattukudy, P.E. J. Biol. Chem. (1983) [Pubmed]
  6. Benign methylmalonic aciduria. Ledley, F.D., Levy, H.L., Shih, V.E., Benjamin, R., Mahoney, M.J. N. Engl. J. Med. (1984) [Pubmed]
  7. Conversion of the chemical energy of methylmalonyl-CoA decarboxylation into a Na+ gradient. Hilpert, W., Dimroth, P. Nature (1982) [Pubmed]
  8. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts. Wilkemeyer, M.F., Crane, A.M., Ledley, F.D. J. Clin. Invest. (1991) [Pubmed]
  9. Selective inactivation of vitamin B12 in rats by nitrous oxide. Deacon, R., Lumb, M., Perry, J., Chanarin, I., Minty, B., Halsey, M.J., Nunn, J.F. Lancet (1978) [Pubmed]
  10. Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core. Hall, P.R., Wang, Y.F., Rivera-Hainaj, R.E., Zheng, X., Pustai-Carey, M., Carey, P.R., Yee, V.C. EMBO J. (2003) [Pubmed]
  11. Fatty acid biosynthesis in Mycobacterium tuberculosis var. bovis Bacillus Calmette-Guérin. Purification and characterization of a novel fatty acid synthase, mycocerosic acid synthase, which elongates n-fatty acyl-CoA with methylmalonyl-CoA. Rainwater, D.L., Kolattukudy, P.E. J. Biol. Chem. (1985) [Pubmed]
  12. Stabilization of radical intermediates by an active-site tyrosine residue in methylmalonyl-CoA mutase. Thomä, N.H., Meier, T.W., Evans, P.R., Leadlay, P.F. Biochemistry (1998) [Pubmed]
  13. Proton transfer in methylmalonyl-CoA epimerase from Propionibacterium shermanii. The reaction of (2R)-methylmalonyl-CoA in tritiated water. Fuller, J.Q., Leadlay, P.F. Biochem. J. (1983) [Pubmed]
  14. Methylmalonyl-CoA mutase from Propionibacterium shermanii. Evidence for the presence of two masked cysteine residues. Marsh, E.N., Leadlay, P.F. Biochem. J. (1989) [Pubmed]
  15. Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism. Baumgartner, E.R., Bachmann, C., Brechbühler, T., Wick, H. Pediatr. Res. (1975) [Pubmed]
  16. Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Ledley, F.D., Lumetta, M.R., Zoghbi, H.Y., VanTuinen, P., Ledbetter, S.A., Ledbetter, D.H. Am. J. Hum. Genet. (1988) [Pubmed]
  17. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. Jansen, R., Ledley, F.D. Am. J. Hum. Genet. (1990) [Pubmed]
  18. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Dobson, C.M., Wai, T., Leclerc, D., Wilson, A., Wu, X., Doré, C., Hudson, T., Rosenblatt, D.S., Gravel, R.A. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  19. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Dobson, C.M., Wai, T., Leclerc, D., Kadir, H., Narang, M., Lerner-Ellis, J.P., Hudson, T.J., Rosenblatt, D.S., Gravel, R.A. Hum. Mol. Genet. (2002) [Pubmed]
  20. Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. Ledley, F.D., Lumetta, M., Nguyen, P.N., Kolhouse, J.F., Allen, R.H. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  21. Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells. Fenton, W.A., Hack, A.M., Helfgott, D., Rosenberg, L.E. J. Biol. Chem. (1984) [Pubmed]
  22. Purification and characterization of novel "2-arylpropionyl-CoA epimerases" from rat liver cytosol and mitochondria. Shieh, W.R., Chen, C.S. J. Biol. Chem. (1993) [Pubmed]
  23. Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography. Vassiliadis, A., Rosenblatt, D.S., Cooper, B.A., Bergeron, J.J. Exp. Cell Res. (1991) [Pubmed]
  24. Cyanocobalamin [c-lactam] inhibits vitamin B12 and causes cytotoxicity in HL60 cells: methionine protects cells completely. Matthews, J.H. Blood (1997) [Pubmed]
  25. Recognition, isolation, and characterization of rat liver D-methylmalonyl coenzyme A hydrolase. Kovachy, R.J., Copley, S.D., Allen, R.H. J. Biol. Chem. (1983) [Pubmed]
  26. Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts. Stankovics, J., Ledley, F.D. Am. J. Hum. Genet. (1993) [Pubmed]
  27. Discovering new enzymes and metabolic pathways: conversion of succinate to propionate by Escherichia coli. Haller, T., Buckel, T., Rétey, J., Gerlt, J.A. Biochemistry (2000) [Pubmed]
  28. Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. Zhang, J., Dobson, C.M., Wu, X., Lerner-Ellis, J., Rosenblatt, D.S., Gravel, R.A. Mol. Genet. Metab. (2006) [Pubmed]
  29. Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization. Threadgill, D.W., Wilkmeyer, M., Womack, J.E., Ledley, F.D. Cytogenet. Cell Genet. (1990) [Pubmed]
  30. Metabolic engineering of Escherichia coli for improved 6-deoxyerythronolide B production. Murli, S., Kennedy, J., Dayem, L.C., Carney, J.R., Kealey, J.T. J. Ind. Microbiol. Biotechnol. (2003) [Pubmed]
  31. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia. Kolhouse, J.F., Utley, C., Fenton, W.A., Rosenberg, L.E. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  32. Importance of the histidine ligand to coenzyme B12 in the reaction catalyzed by methylmalonyl-CoA mutase. Vlasie, M., Chowdhury, S., Banerjee, R. J. Biol. Chem. (2002) [Pubmed]
  33. Isolation and characterization of methylmalonyl-CoA mutase from human placenta. Kolhouse, J.F., Utley, C., Allen, R.H. J. Biol. Chem. (1980) [Pubmed]
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