Article
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Clinica chimica acta; international journal of clinical chemistry - 18 Apr 2013
Réblová Kamila, Hrubá Zuzana, Procházková Dagmar, Pazdírková Renata, Pouchlá Slávka, Zeman Jiří, Fajkusová Lenka
Abstract excerpt
BACKGROUND: Hyperphenylalaninemia (HPA) is one of the most common inherited metabolic disorders caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). HPA is associated with mutations in the PAH gene, which leads to reduced protein stability and/or impaired catalytic function. Currently, almost 700 different disease-causing mutations have been described. The impact of mutations on enzyme activity...
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