Article
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.
Molecular genetics and metabolism - 1 Jan 2011
Rivera Isabel, Mendes Dina, Afonso Ângela, Barroso Madalena, Ramos Ruben, Janeiro Patrícia, Oliveira Anabela, Gaspar Ana, Tavares de Almeida Isabel
Abstract excerpt
Hyperphenylalaninemia (HPA, OMIM #261600), which includes phenylketonuria (PKU), is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH), being already described more than 600 different mutations. Genotype-phenotype correlation is a useful tool to predict the metabolic phenotype, to establish the better tailored diet and, more recently, to assess the potential responsiveness to BH(4) therapy,...
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