title: Two cases of glutaric aciduria type 1: clinical and neuropathological findings.
abstract: We report clinical and neuropathological studies of 2 patients with glutaric aciduria type 1. A 10-month-old male with involuntary movements expired suddenly at home. The second, a 15-year-old female, died after three episodes of acute encephalopathy including a Reye syndrome-like episode and an episode of severe hypoglycemia. Hypocarnitinemia was also present. Selective involvement of type II muscle fibers was observed during the Reye syndrome-like episode. Magnetic resonance imaging of the 2 patients showed marked widening of the sylvian fissure, atrophy of the basal ganglia, and white matter lesions. Neuropathology of the 10-month-old patient showed: (1) temporal and frontal lobe hypoplasia, (2) degeneration of the putamen and the pallidum, (3) mild status spongiosus in the cerebral white matters, (4) heterotopic neurons in the cerebellum, and (5) hypoplasia of the cerebral white matter. This patient appeared to manifest a migration and/or maturation abnormality of the brain as well as previously observed basal ganglia and white matter degeneration.
authors.affiliation: Department of Pediatrics, Urafune Hospital of Yokohama City University School of Medicine, Kanagawa, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kimura
authors.forename: M
authors.initials: M
authors.lastname: Hara
authors.forename: A
authors.initials: A
authors.lastname: Nezu
authors.forename: H
authors.initials: H
authors.lastname: Osaka
authors.forename: S
authors.initials: S
authors.lastname: Yamazaki
authors.forename: K
authors.initials: K
authors.lastname: Saitoh
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology* / Q000503:physiopathology*; D009474:Neurons / Q000473:pathology; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D014057:Tomography, X-Ray Computed
chemical_list: D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase