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

Dobrowolski, Steven; Heintz, Caroline; Miller, Trent; Ellingson, Clinton; Ellingson, Clifford; Oezer, Isil; Goekcay, GÜLDEN; Baykal, Tolunay; Thoeny, Beat; Demirkol, Muebeccel; Blau, Nenad

doi:10.1016/j.ymgme.2010.11.158

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, Scopus)

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.