Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

Authors
Lindner, M Haas, D Zschocke, J Burgard, P
Citation
M. Lindner et al., Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype, MOL GEN MET, 73(1), 2001, pp. 104-106
Citations number
13
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR GENETICS AND METABOLISM
ISSN journal
10967192 → ACNP
Volume
73
Issue
1
Year of publication
2001
Pages
104 - 106
Database
ISI
SICI code
1096-7192(200105)73:1<104:TRIPDB>2.0.ZU;2-K
Abstract
Recently, BH4-responsive phenylalanine hydroxylase (PAH) deficiency was rep orted in patients with specific mutations in the PAH gene, and it was sugge sted that BH, responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH4 loading. Our results suggest th at BH4, responsiveness in PAH deficiency is at least partly independent fro m PAH genotype. (C) 2001 Academic Press.