Ontology highlight
ABSTRACT:
SUBMITTER: Hillert A
PROVIDER: S-EPMC7413859 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Hillert Alicia A Anikster Yair Y Belanger-Quintana Amaya A Burlina Alberto A Burton Barbara K BK Carducci Carla C Chiesa Ana E AE Christodoulou John J Đorđević Maja M Desviat Lourdes R LR Eliyahu Aviva A Evers Roeland A F RAF Fajkusova Lena L Feillet François F Bonfim-Freitas Pedro E PE Giżewska Maria M Gundorova Polina P Karall Daniela D Kneller Katya K Kutsev Sergey I SI Leuzzi Vincenzo V Levy Harvey L HL Lichter-Konecki Uta U Muntau Ania C AC Namour Fares F Oltarzewski Mariusz M Paras Andrea A Perez Belen B Polak Emil E Polyakov Alexander V AV Porta Francesco F Rohrbach Marianne M Scholl-Bürgi Sabine S Spécola Norma N Stojiljković Maja M Shen Nan N Santana-da Silva Luiz C LC Skouma Anastasia A van Spronsen Francjan F Stoppioni Vera V Thöny Beat B Trefz Friedrich K FK Vockley Jerry J Yu Youngguo Y Zschocke Johannes J Hoffmann Georg F GF Garbade Sven F SF Blau Nenad N
American journal of human genetics 20200714 2
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 in disease severity in 51 countries from 17 world regions, with the global phenotyp ...[more]