Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes
作者： Hardo Lilleväli , Katrin Õunap , Andres Metspalu
DOI: 10.1159/000472217
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摘要: Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia observed, leads to phenylketonuria (PKU), a disease causing mental retardation, unless treated with low-phenylalanine diet since early childhood. Estonia, PKU among most common inherited metabolic diseases. The data from retrospective study and newborn screening show an approximate incidence 1 in 6,000 newborns. Molecular analysis 34 Estonian patients has revealed high genotypic homogeneity this group, as 84% mutant alleles carry R408W mutation. rate mutation population rises speculation Finno-Ugric contribution East European pool PAH alleles. Five more mutations — IVS12ntl, R261Q, R252W, R158Q, S349P have been detected. detection was 92% studied patients.
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