Article
The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
Molecular genetics and metabolism - 1 Sept 1999
Bénit P, Rey F, Blandin-Savoja F, Munnich A, Abadie V, Rey J
Abstract excerpt
Phenylketonuria and mild hyperphenylalaninemias are allelic disorders caused by mutations in the phenylalanine hydroxylase (PAH) gene. Following identification of the disease-causing mutation in 11 PAH-deficient patients, we tested the activity of the mutant gene products in an eukaryotic expression system. Two mutations markedly reduced PAH activity (A259V and L333F), one mutation mildly altered the enzyme...
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