Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski S. F., Heintz C., Miller T., Ellingson C., Ellingson C., Oezer I., ...More

Molecular genetics and metabolism, vol.102, no.2, pp.116-21, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 102 Issue: 2
  • Publication Date: 2011
  • Doi Number: 10.1016/j.ymgme.2010.11.158
  • Journal Name: Molecular genetics and metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.116-21
  • Keywords: Phenylketonuria, Sapropterin, Hyperphenylalaninemia, BH4, PKU, PAH, LONG-TERM TREATMENT, PHENYLKETONURIA MUTATIONS, SEPIAPTERIN REDUCTASE, HYPERPHENYLALANINEMIA, DIAGNOSIS
  • Istanbul University Affiliated: Yes

Abstract

Background: The prevalence of phenylalanine hydroxylase (PAH)-deficient phenylketonuria (PKU) in Turkey is high (1 in 6500 births), but data concerning the genotype distribution and impact of the genotype on tetrahydrobiopterin (BH4) therapy are scarce.