Infantile spasms as the initial symptom of biotinidase deficiency

J Pediatr. 1994 Jan;124(1):103-4. doi: 10.1016/s0022-3476(94)70263-2.


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.

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Biotinidase
  • Female
  • Humans
  • Infant
  • Male
  • Spasm / etiology*


  • Amidohydrolases
  • Biotinidase