title: A mild form of infantile isolated sulphite oxidase deficiency.
abstract: Neonatal sulphite oxidase deficiency is characterised by severe neurologic dysfunction, brain atrophy, dislocation of the lens and increased urinary excretion of sulphite, thiosulphate, taurine and S-sulphocysteine, and by a low plasma cystine. We present clinical, neuroradiological and biochemical data of a patient with late onset symptoms comparing this presentation with the neonatal form and stressing the difficulties of the diagnosis of this disorder.
authors.affiliation: Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Barbot
authors.forename: E
authors.initials: E
authors.lastname: Martins
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: M L
authors.initials: ML
authors.lastname: Cardoso
mesh_terms: D001284:Atrophy / Q000175:diagnosis / Q000503:physiopathology*; D002648:Child; D004569:Electroencephalography; D005260:Female; D005917:Globus Pallidus / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency* / Q000652:urine
chemical_list: D050862:Oxidoreductases Acting on Sulfur Group Donors