title: Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.
abstract: The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is described. In addition to 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids, substantial amounts of glutaric and adipic acids were repeatedly observed. 3-Methylcrotonic acid and possibly one of its isomers was found to be formed artificially from 3-methylglutaconic acid.
mesh_terms: D000214:Acyl Coenzyme A; D002264:Carboxylic Acids / Q000652:urine*; D002849:Chromatography, Gas; D005977:Glutarates; D006801:Humans; D013058:Mass Spectrometry; D007652:Oxo-Acid-Lyases / Q000172:deficiency*
chemical_list: D000214:Acyl Coenzyme A; D002264:Carboxylic Acids; D005977:Glutarates; C008047:3-hydroxy-3-methylglutaryl-coenzyme A; D007652:Oxo-Acid-Lyases