Phenylketonuria
Analysis ID 85
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Phenylketonuria
OMIM #261600
Clinical information Phenylketonuria (PKU) is an autosomal recessive genetic metabolic disorder. The disease is caused by reduced activity of phenylalanine hydroxylase enzyme, which catalyzes the hydroxylation of phenylalanine to tyrosine. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia. High concentrations of phenyloalanine can be toxic. With en early diagnosis (shortly after childbirth), one can prevent the development of severe signs of the disorder. Phenylketonuria subdivides into 3 types: classic phenylketonuria, mild phenylketonuria, and mild hyperphenylalaninemia. Clinical severity depends largely on the type of PAH mutations. In Polish population classic phenylketonuria is mostly caused by following mutations: R408W (59,3%), R158Q (3,4%), IVS10 – c.1066-11g-a (5%), IVS12 – c.1315+1g-a (3,9%), whereas mild phenylketonuria by mutations: R408W, E390G, Y414C, A104D, R241H, IVS10, R261Q, V388M, R68G, R68S, I95F. In case of mild hyperphenylalaninemia, sequencing of exons 8, 9, 12 is performed, since mutations located in these exons underlie up to 70% of the disease among Polish population.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes PAH (exons 5, 7, 11, 12)
Analysis description Sequencing analysis of exons 5, 7, 11, 12 of PAH gene
Analysis indication Symptoms of phenylketonuria
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders