Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.

doi:10.1111/j.1651-2227.1994.tb13451.x

Back to search

Article

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994

Güttler F, Guldberg P

Abstract excerpt

Phenylalanine hydroxylase (PAH) deficiency is a heterogeneous disease at the phenotype level. The spectrum of clinical and metabolic phenotypes spans from the potential pathogenic disease classical phenylketonuria (PKU) to the benign condition non-PKU hyperphenylalaninemia (non-PKU HPA). This rev...

Topics

Denmark
Genetic Variation
Genotype
Humans
Infant, Newborn
Mutation
Phenotype
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias
Severity of Illness Index

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.