malonyl-coenzyme-a and Infant--Newborn--Diseases

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.

Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Humans; Hydroxy Acids; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Liver; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pentanoic Acids; Valerates