Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Date publication

décembre 2015

Journal

Orphanet journal of rare diseases

Auteurs

Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis , Dr NAMOUR Bernard , Dr BATTAGLIA-HSU Shyue-Fang

Tous les auteurs :
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/26666653

Résumé

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.

Mots clés

Biopterin, analogs & derivatives, Cohort Studies, Female, France, epidemiology, Genetic Association Studies, methods, Genotype, Humans, Male, Phenotype, Phenylketonurias, drug therapy, Treatment Outcome

Référence

Orphanet J Rare Dis. 2015 Dec;10:158