Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
A patient with methylmalonic and beta-hydroxy-n-valeric aciduria, apparently due to deficiency of methylmalonyl-CoA mutase, is described. The excretion of beta-hydroxy-n-valerate did not parallel that of beta-hydroxypropionate and methylmalonate but was observed, together with beta-keto-n-valerate, only during ketosis. beta-Hydroxy-n-valerate excretion thus correlates primarily not with the pool size of propionyl-CoA but with that of acetyl-CoA, and may occur during ketosis in any disorder causing accumulation of propionyl-CoA.
D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D002849:Chromatography, Gas; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000652:urine*; D007535:Isomerases / Q000172:deficiency*; D008099:Liver / Q000201:enzymology; D008297:Male; D008314:Malonates / Q000652:urine*; D008316:Malonyl Coenzyme A / Q000378:metabolism; D013058:Mass Spectrometry; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D010421:Pentanoic Acids / Q000652:urine*; D014631:Valerates / Q000652:urine*
D006880:Hydroxy Acids; D008314:Malonates; D010421:Pentanoic Acids; D014631:Valerates; D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; D007535:Isomerases; D008765:Methylmalonyl-CoA Mutase