title: Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.
abstract: In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.
authors.affiliation: University Children's Hospital, München, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Ibel
authors.forename: W
authors.initials: W
authors.lastname: Endres
authors.forename: H B
authors.initials: HB
authors.lastname: Hadorn
authors.forename: T
authors.initials: T
authors.lastname: Deufel
authors.forename: I
authors.initials: I
authors.lastname: Paetzke
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: N G
authors.initials: NG
authors.lastname: Kennaway
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications* / Q000378:metabolism; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D003576:Electron Transport Complex IV / Q000378:metabolism; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism; D007223:Infant; D007930:Leucine / Q000378:metabolism; D008297:Male; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000201:enzymology* / Q000473:pathology; D012120:Respiration Disorders / Q000150:complications* / Q000378:metabolism / Q000473:pathology
chemical_list: D005977:Glutarates; C033686:3-methylglutaric acid; C022034:3-methylglutaconic acid; D015093:Meglutol; D003576:Electron Transport Complex IV; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase; D007930:Leucine