Biotinidase deficiency: result of treatment with biotin from age 12 years.
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.
Casado de Frías
E
E
Department of Pediatrics, Hospital Universitario San Carlos UCM, Madrid, Spain.
Campos-Castelló
J
J
Careaga Maldonado
J
J
Pérez Cerdá
C
C
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
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase