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