Article
The Genetic Landscape and Epidemiology of Phenylketonuria.
American journal of human genetics - 6 Aug 2020
Hillert Alicia, Anikster Yair, Belanger-Quintana Amaya, Burlina Alberto, Burton Barbara K, Carducci Carla, Chiesa Ana E, Christodoulou John, Đorđević Maja, Desviat Lourdes R, Eliyahu Aviva, Evers Roeland A F, Fajkusova Lena, Feillet François, Bonfim-Freitas Pedro E, Giżewska Maria, Gundorova Polina, Karall Daniela, Kneller Katya, Kutsev Sergey I, Leuzzi Vincenzo, Levy Harvey L, Lichter-Konecki Uta, Muntau Ania C, Namour Fares, Oltarzewski Mariusz, Paras Andrea, Perez Belen, Polak Emil, Polyakov Alexander V, Porta Francesco, Rohrbach Marianne, Scholl-Bürgi Sabine, Spécola Norma, Stojiljković Maja, Shen Nan, Santana-da Silva Luiz C, Skouma Anastasia, van Spronsen Francjan, Stoppioni Vera, Thöny Beat, Trefz Friedrich K, Vockley Jerry, Yu Youngguo, Zschocke Johannes, Hoffmann Georg F, Garbade Sven F, Blau Nenad
Abstract excerpt
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]-1:125,000 [Japan]). Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.