Biotinidase deficiency

Indian Pediatr. 2008 Sep;45(9):777-9.

Abstract

A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.

Publication types

  • Case Reports

MeSH terms

  • Acidosis / etiology
  • Alopecia / etiology
  • Biotin / therapeutic use
  • Biotinidase Deficiency* / complications
  • Biotinidase Deficiency* / diagnosis
  • Biotinidase Deficiency* / drug therapy
  • Dermatitis, Seborrheic / etiology
  • Epilepsy / etiology
  • Humans
  • Infant
  • Male

Substances

  • Biotin