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Article

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Journal of inherited metabolic disease - 1 Jul 2026

Haitjema S, van Steenis E M, Lubout C M A, Heiner-Fokkema M R, Zschocke J, van Spronsen F J

Abstract excerpt

Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors. Nevertheless, as therapeutic options broaden, precise determination of PAH deficiency severity becomes critical to inform individualized treatment...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42324212
DOI: 10.1002/jimd.70215
PMCID: PMC13283850

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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