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Article

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

Molecular genetics and metabolism - 1 Mar 2016

Shen Nan, Heintz Caroline, Thiel Christian, Okun Jürgen G, Hoffmann Georg F, Blau Nenad

Abstract excerpt

BACKGROUND: In phenylketonuria (PKU) patients, the combination of two phenylalanine hydroxylase (PAH) alleles is the main determinant of residual enzyme activity in vivo and in vitro. Inconsistencies in genotype-phenotype correlations have been observed in compound heterozygous patients and a particular combination of two PAH alleles may produce a phenotype that is different from the expected one, possibly due to...

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PMID: 26803807
DOI: 10.1016/j.ymgme.2016.01.004

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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