Journal article
The Genetic Landscape and Epidemiology of Phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, C Carducci, AE Chiesa, J Christodoulou, M Đorđević, LR Desviat, A Eliyahu, RAF Evers, L Fajkusova, F Feillet, PE Bonfim-Freitas, M Giżewska, P Gundorova, D Karall, K Kneller, SI Kutsev Show all
American Journal of Human Genetics | Published : 2020
Abstract
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 phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in..
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Awarded by State Government of Victoria
Funding Acknowledgements
We are indebted to Suha Daas, who works at the National Newborn screening Program, Ministry of Health, Tel Hashomer Israel for her help and analyses. Farrah Rajabi, Fran Rohr, AnnWessel, Leslie Martell, Steven Dobrowolski, Per Guldberg, and the late Flemming Guttler were greatly responsible for the data from New England. This work was funded in part by the Fundacion Isabel Gemio-Fundacion La Caixa (LCF/PR/PR16/11110018), the Regional Government of Madrid (CAM, B2017/BMD3721), and by NIH, United States grants R01DK117916 and R01NR016991. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The work of G.F.H. on newborn screening has been generously supported by the Dietmar Hopp Foundation, St. Leon-Rot.