title: Infantile spasms as the initial symptom of biotinidase deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hacettepe Children's Hospital, Ankara, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Kalayci
authors.forename: T
authors.initials: T
authors.lastname: Coskun
authors.forename: A
authors.initials: A
authors.lastname: Tokatli
authors.forename: E
authors.initials: E
authors.lastname: Demir
authors.forename: G
authors.initials: G
authors.lastname: Erdem
authors.forename: C
authors.initials: C
authors.lastname: Güngör
authors.forename: A
authors.initials: A
authors.lastname: Yükselen
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013035:Spasm / Q000209:etiology*
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase