Neonatal Screening for Biotidinidase Deficiency: Results of a 1-year Pilot Study in Four Cities in Central Anatolia


Tanzer F., Sancaktar M., Buyukkayhan D.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.22, no.12, pp.1113-1116, 2009 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 12
  • Publication Date: 2009
  • Doi Number: 10.1515/jpem.2009.22.12.1113
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.1113-1116

Abstract

Background: Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. It functions as the carboxyl carrier for biotin-dependent carboxylases. These enzymes catalyze gluconeogenesis, fatty acid metabolism and amino acid catabolism, thus biotin plays an essential role in maintaining metabolic homeostasis. Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms, treated by oral administration of the vitamin biotin. In central Anatolia marriages between relatives are very common (26%).