title: Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
abstract: Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a disease causing mental retardation, unless treated with a low-phenylalanine diet since early childhood. In Estonia, PKU is among the most common inherited metabolic diseases. The data from retrospective study and newborn screening show an approximate incidence of 1 in 6,000 newborns. Molecular analysis of 34 Estonian patients has revealed high genotypic homogeneity in this group, as 84% of the mutant alleles carry the R408W mutation. The high rate of this mutation in the Estonian population rises the speculation of Finno-Ugric contribution to the East European pool of mutant PAH alleles. Five more mutations-IVS12nt1, R261Q, R252W, R158Q, S349P-have been detected. The mutation detection rate was 92% among the studied patients.
authors.affiliation: Tartu University Institute of Molecular and Cell Biology, Estonian Biocentre, Estonia.
authors.forename: H
authors.initials: H
authors.lastname: Lilleväli
authors.forename: K
authors.initials: K
authors.lastname: Ounap
authors.forename: A
authors.initials: A
authors.lastname: Metspalu
mesh_terms: D004957:Estonia; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D011110:Polymorphism, Genetic; D012189:Retrospective Studies
chemical_list: D010651:Phenylalanine Hydroxylase