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Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Genetic testing and molecular biomarkers - 1 Aug 2026

Zhang Li, Ren Jie, Su Jilong, Kang Wenjuan, Dai Ke, Zhang Xinhua, Guan Hanzhou

Abstract excerpt

OBJECTIVE: Phenylketonuria (PKU) is a genetic metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, with an incidence rate in China of approximately 1 in 11,000. PKU exhibits high heterogeneity, making the study of genotype-phenotype correlations essential for effective diagnosis and treatment. METHODS: This study aimed to analyze the genotype-phenotype correlation in pediatric PKU...

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Identifiers

PMID: 42446367
DOI: 10.1177/19450265261440180

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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