Molecular genetics and diagnosis of phenylketonuria: state of the art. (July 2014)

• Record Type: Journal Article
• Authors: Blau, Nenad; Shen, Nan; Carducci, Carla
• Is Part Of: Expert review of molecular diagnostics. Volume 14:Number 6(2014)
• Page Start: 655
• Page End: 671
• Publication Date: 2014-07
• Subjects: BH4 -- hyperphenylalaninemia -- kuvan -- PKU -- tetrahydrobiopterin; Molecular diagnosis -- Periodicals; 616.0758205
• DOI: 10.1586/14737159.2014.923760
• Languages: English
• ISSNs: 1473-7159

Abstract

Abstract : 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.