title: Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.
abstract: Two patients with methylmalonic acidaemia due to methylmalonyl-CoA mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.
mesh_terms: D000138:Acidosis / Q000652:urine*; D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D002675:Child, Preschool; D002849:Chromatography, Gas; D005260:Female; D006801:Humans; D007662:Ketosis / Q000209:etiology / Q000652:urine*; D008314:Malonates / Q000652:urine*; D013058:Mass Spectrometry; D008764:Methylmalonic Acid / Q000652:urine*
chemical_list: D008314:Malonates; D008764:Methylmalonic Acid