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Article

Genotype-phenotype relationships in phenylalanine hydroxylase deficiency: Functional annotation-enhanced analysis of 23,427 individuals.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2026

Blau Nenad, Himmelreich Nastassja

Abstract excerpt

PURPOSE: Phenylalanine hydroxylase deficiency spans from mild hyperphenylalaninemia (MHP) to mild PKU phenylketonuria (mPKU) and classic PKU (cPKU). Genotype-phenotype inference is complicated by allelic heterogeneity and the incomplete functional annotation of complementary DNA-only variant strings. METHODS: We analyzed 23,427 individuals with 2 PAH alleles and metabolic phenotype (MHP [n = 4208, 18.0%], mPKU [n...

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Topics

Humans
Phenylketonurias
Phenylalanine Hydroxylase
Phenotype
Genetic Association Studies
Alleles

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genotype

Phenylalanine

Source

Identifiers

PMID: 42423070
DOI: 10.1016/j.gim.2026.102640

Genes

PAH

Provenance

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