Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

被引：60

作者：

Lindner, M ^{[1
]}

Haas, D ^{[1
]}

Zschocke, J ^{[1
]}

Burgard, P ^{[1
]}

机构：

[1] Univ Childrens Hosp, Div Metab & Endocrine Dis, D-69120 Heidelberg, Germany

来源：

MOLECULAR GENETICS AND METABOLISM | 2001年 / 73卷 / 01期

关键词：

D O I：

10.1006/mgme.2001.3168

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Recently, BH4-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested 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 that BH4, responsiveness in PAH deficiency is at least partly independent from PAH genotype. (C) 2001 Academic Press.

引用

页码：104 / 106

页数：3

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