Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

ABSTRACT: Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological symptoms. To prevent severe clinical presentations, it was included in the Dutch neonatal screening programme in 2007. Since then the number of cases detected has been high. This study set out to describe the incidence of the disease, the clinical and demographic characteristics of the neonates identified and the type of mutations found. In the south-western Netherlands, 304 982 neonates were screened between 2007 and 2012; and 92 were identified for further testing. Confirmatory testing revealed 6 (7%) with a profound biotinidase deficiency (<10% enzyme activity), 44 (48%) with a partial deficiency (10-30%) and 42 (46%) with normal activity (>30%). All six patients whose profound deficiency wa

SUBMITTER: Wiltink RC 

PROVIDER: S-EPMC5027693 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature