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: Nenad Blau, Nan Shen, Carla Carducci
• Journal: Expert review of molecular diagnostics (Expert Rev Mol Diagn) Vol. 14 Issue 6 Pg. 655-71 (Jul 2014) ISSN: 1744-8352 [Electronic] England
• PMID: 24882081 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Biopterin
• Phenylalanine
• Phenylalanine Hydroxylase
• sapropterin

Topics

• Biopterin (analogs & derivatives, therapeutic use)
• Databases, Genetic
• Genetic Association Studies
• Genetic Testing
• Genotype
• Humans
• Hydrolysis
• Male
• Phenotype
• Phenylalanine (metabolism)
• Phenylalanine Hydroxylase (genetics)
• Phenylketonurias (diagnosis, genetics, prevention & control, therapy)
• Treatment Outcome