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Article

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

European journal of pediatrics - 1 Jul 1996

Güttler F, Guldberg P

Abstract excerpt

The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expression studies each mutation has a particular influence on enzyme activity, which explains the...

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Source

Identifiers

PMID: 8828600
DOI: 10.1007/pl00014253

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.PMID 8828600Read ↗

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