title: The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia.
abstract: Ten patients with biotin-dependent, chronic progressive encephalopathies were studied retrospectively. In four patients, the underlying disease was either total or partial deficiency of biotinidase. In one patient, the disease was caused by a lack of holocarboxylase synthetase activity. Four patients presented with Leigh encephalopathy. However, a biochemical defect could not always be confirmed. All patients required the administration of large doses of biotin to maintain normal neurologic function.
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: O
authors.initials: O
authors.lastname: Dabbagh
authors.forename: J
authors.initials: J
authors.lastname: Brismar
authors.forename: G G
authors.initials: GG
authors.lastname: Gascon
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000627:therapeutic use*; D043523:Biotinidase; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000201:enzymology; D019731:Carbon-Nitrogen Ligases; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000201:enzymology; D008025:Ligases / Q000172:deficiency; D008297:Male; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed
chemical_list: D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase; D008025:Ligases; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases