Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase.
A three-month old child, presenting with a history of feeding problems, suspected respiratory infection and failure to thrive, later developed fits and a profound irreversible metabolic acidosis. Chromatographic investigation of the urine revealed a gross excretion of 2-oxoglutaric and 3-hydroxyisovaleric acids. The identity of these two acids was confirmed by mass spectrometry. Enzyme studies on liver obtained at post-mortem demonstrated a deficiency of 3-methylcrotonyl-CoA:carbon dioxide ligase (ADP) (EC 6.4.1.4).
D003437:Crotonates; D005260:Female; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D007223:Infant; D007656:Ketoglutaric Acids / Q000652:urine*; D008025:Ligases / Q000172:deficiency*; D008099:Liver / Q000201:enzymology; D013058:Mass Spectrometry; D014631:Valerates / Q000652:urine*
D003437:Crotonates; D006880:Hydroxy Acids; D007656:Ketoglutaric Acids; D014631:Valerates; D008025:Ligases