title: [Glutaric aciduria type 1: phenotypic variability. Report of 6 patients].
abstract: We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal until the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two patients have intellectual preservation; one of them has a mild tremor and choreoathetosis since the first year of age, and the other had only two afebrile seizures in infancy and no other neurologic signs. Three patients are severely handicapped, with a severe dystonic-dyskinetic disorder and unable to even sit. All the six patients have macrocephaly and in all the computed tomography showed enlarged CSF spaces and sulcal separation over the frontal and temporal lobes. Urine organic acids study of all patients showed large quantities of glutaric acid.
authors.affiliation: Instituto da Criança do Hospital das Clínica (HC), Faculdade de Medicina, Universidade de São Paulo (FMUSP), Brasil. erasmobc-icr.hcnet.usp.br
authors.forename: E B
authors.initials: EB
authors.lastname: Casella
authors.forename: A U
authors.initials: AU
authors.lastname: Bresolin
authors.forename: M
authors.initials: M
authors.lastname: Valente
authors.forename: D A
authors.initials: DA
authors.lastname: Daniel
authors.forename: J J
authors.initials: JJ
authors.lastname: Machado
authors.forename: M A
authors.initials: MA
authors.lastname: Vieira
authors.forename: A G
authors.initials: AG
authors.lastname: Tenório
authors.forename: N
authors.initials: N
authors.lastname: Chamoles
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D000601:Amino Acids, Essential / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008297:Male; D010641:Phenotype
chemical_list: D000601:Amino Acids, Essential; D005977:Glutarates; C035736:glutaric acid
vernacular_title: Acidúria glutárica tipo 1. Variabilidade fenotípica. Estudo de seis pacientes.