Biotinidase deficiency: early neurological presentation.
Three patients with biotinidase deficiency are described. Two presented at eight weeks of age with anticonvulsant-resistant fits, developmental delay and hypotonia. Treatment has been effective. The third developed ataxia and alopecia at 14 months and died suddenly at 19 months of age. In all three cases the diagnosis was not considered quickly enough. Biotinidase deficiency is a treatable cause of severe neurological problems.
Collins
J E
JE
Newcomen Centre, Guy's Hospital, London, UK.
Nicholson
N S
NS
Dalton
N
N
Leonard
J V
JV
D000140:Acidosis, Lactic / Q000175:diagnosis / Q000209:etiology; D000505:Alopecia / Q000175:diagnosis; D000581:Amidohydrolases / Q000172:deficiency*; D001259:Ataxia / Q000175:diagnosis / Q000209:etiology; D043523:Biotinidase; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005074:Evoked Potentials, Visual; D006801:Humans; D007223:Infant; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis* / Q000209:etiology; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000209:etiology; D012640:Seizures / Q000175:diagnosis / Q000209:etiology; D013577:Syndrome
D000581:Amidohydrolases; D043523:Biotinidase