title: 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
abstract: A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3-methylglutaric aciduria leading to the tentative diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. Metabolite excretion was correlated with variation of leucine intake. 3-methyl-3-hydroxyglutaryl-CoA lyase activity in cultured fibroblasts was normal. The suspected metabolic defect was not demonstrable in cultured skin fibroblasts, however.
authors.forename: W
authors.initials: W
authors.lastname: Lehnert
authors.forename: J
authors.initials: J
authors.lastname: Scharf
authors.forename: U
authors.initials: U
authors.lastname: Wendel
mesh_terms: D000138:Acidosis / Q000209:etiology; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000652:urine*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine*; D009123:Muscle Hypotonia / Q000209:etiology; D012867:Skin / Q000473:pathology
chemical_list: D005977:Glutarates; C033686:3-methylglutaric acid; C022034:3-methylglutaconic acid; D015093:Meglutol; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase