Molecular genetics and diagnosis of phenylketonuria: state of the art.

[phenylketonuria]

Detection of individuals with phenylketonuria (PKU ), an autosomal recessively inherited disorder in phenylalanine degradation , is straightforward and efficient due to newborn screening programs . A recent introduction of the pharmacological treatment option emerged rapid development of molecular testing . However , variants responsible for PKU do not all suppress enzyme activity to the same extent . A spectrum of over 850 variants , gives rise to a continuum of hyperphenylalaninemia from very mild , requiring no intervention , to severe classical PKU , requiring urgent intervention . Locus-specific and genotypes database are today an invaluable resource of information for more efficient classification and management of patients . The high -tech molecular methods allow patients ' genotype to be obtained in a few days , especially if each laboratory develops a panel for the most frequent variants in the corresponding population .