Biotinidase Deficiency and Seizures

Abstract

Preliminary experiences with screening of 24,300 newborns detected 1 infant with biotinidase deficiency at the Depts of Paediatrics, Univ of Verona, Policlinic Borgo Roma, Verona, Italy, and the Hosp for Sick Children, Toronto, Canada.

Keywords

• biotinidase deficiency
• multifocal motor seizures
• chromatographic examination