title: Delayed-onset profound biotinidase deficiency.
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.
authors.affiliation: Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298, USA.
authors.forename: B
authors.initials: B
authors.lastname: Wolf
authors.forename: R J
authors.initials: RJ
authors.lastname: Pomponio
authors.forename: K J
authors.initials: KJ
authors.lastname: Norrgard
authors.forename: I T
authors.initials: IT
authors.lastname: Lott
authors.forename: E R
authors.initials: ER
authors.lastname: Baumgartner
authors.forename: T
authors.initials: T
authors.lastname: Suormala
authors.forename: V T
authors.initials: VT
authors.lastname: Ramaekers
authors.forename: T
authors.initials: T
authors.lastname: Coskun
authors.forename: A
authors.initials: A
authors.lastname: Tokatli
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
authors.forename: J
authors.initials: J
authors.lastname: Hymes
mesh_terms: D000217:Acyltransferases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D017668:Age of Onset; D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D043523:Biotinidase; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009154:Mutation
chemical_list: D000217:Acyltransferases; D000581:Amidohydrolases; D043523:Biotinidase