Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
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- 作者：Elise Jeannesson-Thivisol ; François Feillet…
- 关键词：Phenylketonuria ; Tetrahydrobiopterin ; BH4 ; loading test ; Genotype ; BH4 ; responsiveness
- 刊名：Orphanet Journal of Rare Diseases
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：10
- 期：1
- 全文大小：493 KB
- 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
- 出版者：BioMed Central
- ISSN：1750-1172
文摘
Background Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gene and it is difficult to identify BH4-responsive genotypes. We seek here to improve prediction of BH4-responsiveness through comparison of genotypes, BH4-loading test, predictions of responsiveness according to the literature and types and locations of mutations.