Indexed on: 20 Mar '18Published on: 18 Mar '18Published in: Molecular Genetics and Metabolism Reports
Publication date: June 2018 Source:Molecular Genetics and Metabolism Reports, Volume 15 Author(s): Jessica Scott Schwoerer, Nicoletta Drilias, Ashley Kuhl, Sean Mochal, Mei Baker In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community. This study obtained genotypes of 12 Plain individuals with PAH deficiency, identified through newborn screen or diagnosed by symptomatic presentation, who are receiving medical care at the University of Wisconsin metabolic clinic. Genotype and phenotypic data were evaluated to characterize genotype-phenotype correlations. Results can inform the need for confirmatory testing for the disorder and provide a better understanding of the biochemical phenotype, which may help with management.