ABSTRACT
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood or during adolescence; they had motor limb weakness, spastic paresis, and eye problems, such as loss of visual acuity and scotomata, rather than the more characteristic symptoms observed in young untreated children with the disorder. These older children each have different mutations, but they are the same as those of children who have exhibited symptoms at an early age. Biotinidase deficiency should be considered in older children who suddenly experience limb weakness and/or spastic paresis and eye symptoms.
Subject(s)
Acyltransferases/deficiency , Amidohydrolases/deficiency , Metabolism, Inborn Errors , Acyltransferases/genetics , Adolescent , Age of Onset , Amidohydrolases/genetics , Biotinidase , Child , Female , Humans , Male , Metabolism, Inborn Errors/genetics , MutationABSTRACT
Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.