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National Repository of Grey Literature

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Fenylketonurie - genetický podklad, symptomy, diagnostika a možnosti léčby HRAŠE, David Phenylketonuria (PKU) is an inborn error of metabolism of aromatic acids with a complete deficiency of the enzyme phenylalanine hydroxylase (or its cofactor tetrahydrobiopterin) converting the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in body fluids as a result of this deficiency. Hyperphenylalaninemia causes severe physical and psychological damages to the child for several months after birth, so it is necessary to perform the neonatal screening test. Detailed record

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