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Personalized Genotype‐Based Approach for Treatment of Phenylketonuria

29 Jul 2025

Abstract excerpt

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,...

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PMID: 40730740
DOI: 10.1002/jimd.70067

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