title: Recent advances in the inherited methylmalonic acidemias.
abstract: Methylmalonic acidemia results from decreased activity of methylalonyl-CoA mutase, an enzyme required for the catabolism of four amino acids. A cobalamin (vitamin B12) compound is required as coenzyme. Several inherited mutations of the mutase apoenzyme or of cobalamin coenzyme synthesis have been identified. Clinical disease is most commonly recognized as a severe protein intolerance state although a wide range of symptoms has been appreciated. Current therapy emphasizes strict dietary management and use of vitamin B12 in cobalamin responsive patients.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008314:Malonates / Q000652:urine*; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics; D014805:Vitamin B 12 / Q000378:metabolism
chemical_list: D008314:Malonates; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D014805:Vitamin B 12