title: Biotinidase deficiency: result of treatment with biotin from age 12 years.
abstract: A boy with severe symptoms of biotinidase deficiency diagnosed at the age of 12 years showed a remarkable improvement of his neurological picture and normalization of brain magnetic resonance imaging abnormalities when prescribed oral biotin.
authors.affiliation: Department of Pediatrics, Hospital Universitario San Carlos UCM, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Casado de Frías
authors.forename: J
authors.initials: J
authors.lastname: Campos-Castelló
authors.forename: J
authors.initials: J
authors.lastname: Careaga Maldonado
authors.forename: C
authors.initials: C
authors.lastname: Pérez Cerdá
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000008:administration & dosage*; D043523:Biotinidase; D001921:Brain / Q000473:pathology; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology; D016896:Treatment Outcome
chemical_list: D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase