Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

Jessica Scott Schwoerer; Nicoletta Drilias; Ashley Kuhl; Sean Mochal; Mei Baker

doi:10.1016/j.ymgmr.2018.02.005

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

Mol Genet Metab Rep. 2018 Mar 8:15:75-77. doi: 10.1016/j.ymgmr.2018.02.005. eCollection 2018 Jun.

Authors

Jessica Scott Schwoerer¹, Nicoletta Drilias¹, Ashley Kuhl¹, Sean Mochal², Mei Baker^{1

2}

Affiliations

¹ University of Wisconsin Department of Pediatrics, Waisman Center Madison, WI, USA.
² Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene Madison, WI, USA.

Abstract

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.

Keywords: Genotype; Neonatal screening; Phenylketonuria.