title: [Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria].
abstract: We report two brothers with a glutaric aciduria type I (GA-I) identified by Glutaryl-coenzyme A dehydrogenase deficiency in skin fibroblasts. The onset of neurologic abnormalities was at 6 and 9 months of age as an acute Reye-like presentation in one. Because of the hyperlactacidemia, hyperlactatorrachia, mitochondrial abnormalities in muscular cells and a deficiency in complex I and IV of the respiratory chain in isolated mitochondria from muscle, a presumptive diagnosis of Leigh syndrome was made. We analyze the difference between both disorders. GA-I should be suspected in patients with acute dystonia and psychomotor regression, lactic acidosis and hypodensity of the basal ganglia.
authors.affiliation: Servicio de Neuropediatría, Hospital La Paz, Facultad de Medicina, Universidad Autónoma, Madrid.
authors.forename: A
authors.initials: A
authors.lastname: Martínez Bermejo
authors.forename: I
authors.initials: I
authors.lastname: Pascual Castroviejo
authors.forename: B
authors.initials: B
authors.lastname: Merinero
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: V
authors.initials: V
authors.lastname: López Martín
authors.forename: J
authors.initials: J
authors.lastname: Arcas
authors.forename: M
authors.initials: M
authors.lastname: Gutiérrez Molina
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D001921:Brain / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D004421:Dystonia / Q000209:etiology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology*; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012867:Skin / Q000201:enzymology
chemical_list: D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase
vernacular_title: Deficiencia de los complejos I y IV de la cadena respiratoria mitocondrial en dos hermanos con aciduria glutárica tipo I.