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

doi:10.1186/s13023-015-0375-x

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Article

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

Orphanet journal of rare diseases - 15 Dec 2015

Jeannesson-Thivisol Elise, Feillet François, Chéry Céline, Perrin Pascal, Battaglia-Hsu Shyue-Fang, Herbeth Bernard, Cano Aline, Barth Magalie, Fouilhoux Alain, Mention Karine, Labarthe François, Arnoux Jean-Baptiste, Maillot François, Lenaerts Catherine, Dumesnil Cécile, Wagner Kathy, Terral Daniel, Broué Pierre, de Parscau Loïc, Gay Claire, Kuster Alice, Bédu Antoine, Besson Gérard, Lamireau Delphine, Odent Sylvie, Masurel Alice, Guéant Jean-Louis, Namour Fares

Abstract excerpt

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...

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PMID: 26666653
DOI: 10.1186/s13023-015-0375-x
PMCID: PMC5024853

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