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The associated hyperphenylalaninemia phenotype is highly variable, primarily due to great allelic heterogeneity in the PAH locus. The goal of our study was to assess the relationship between individual PAH locus mutations and biochemical and metabolic phenotypes in phenylketonuria PKU and mild hyperphenylalaninemia MHP patients. All 13 exons of the PAH gene of all PKU probands tested were scanned for DNA sequence alterations by denaturing gradient gel electrophoresis DGGE ; mutations were identified by direct fluorescent automated sequencing or by restriction enzyme digestion analysis of the relevant exons.

Genetics of Phenylketonuria: Then and Now. Phenylketonuria: translating research into novel therapies. Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. Variations in genotype-phenotype correlations in phenylketonuria patients. Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. The molecular basis of phenylketonuria in Lithuania. The structural basis of phenylketonuria.

The PAH gene, phenylketonuria, and a paradigm shift. This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our privacy notice and cookie policy.

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In the cases of a specific DGGE pattern recognised, mutations were identified by direct fluorescent automated sequencing or by restriction enzyme digestion analysis of a relevant exons. We estimated a connection between individual PAH locus mutations and biochemical and metabolic phenotypes in patients in whom the mutant allele acts on its own, i. This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!


European Network for Human Congenital Imprinting Disorders



Predicting a Clinical/Biochemical Phenotype for PKU/MHP Patients With PAH Gene Mutations




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