Personalized Genotype-Based Approach for Treatment of Phenylketonuria.

ABSTRACT: Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of molecular genetic data on the phenylalanine hydroxylase (PAH) gene and its variants. However, many genotypes are associated with a range of clinical phenotypes, as well as variable responsiveness to sapropterin, presenting ongoing challenges for effective treatment. To address this, we enhanced the PAH activity landscapes method by incorporating high-throughput techniques, including automated pipetting, integrated data processing via Gaussian modeling of 3D surfaces, and bioinformatics analyses with robust quality control. Using PAH activity landscapes, we visualized PAH enzymatic function

SUBMITTER: Gundorova P 

PROVIDER: S-EPMC12307255 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature