title: Molecular genetics and diagnosis of phenylketonuria: state of the art.
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.
authors.affiliation: Division of Inborn Metabolic Diseases, University Children's Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Nan
authors.initials: N
authors.lastname: Shen
authors.forename: Carla
authors.initials: C
authors.lastname: Carducci
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives / Q000627:therapeutic use; D030541:Databases, Genetic; D056726:Genetic Association Studies; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006868:Hydrolysis; D008297:Male; D010641:Phenotype; D010649:Phenylalanine / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin
keywords: BH4; PKU; hyperphenylalaninemia; kuvan; tetrahydrobiopterin