First molecular diagnostic kit for phenylketonuria in Turkey

A group of scientists from the Hacettepe University in Ankara developed the first molecular diagnostic kit for phenylketonuria, a common disease throughout Turkey.

First molecular diagnostic kit for phenylketonuria in Turkey

A group of scientists from the Hacettepe University in Ankara developed the first molecular diagnostic kit for phenylketonuria, a common disease throughout Turkey.

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder when left untreated, can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures.

It is characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into as phenylketone, which is detected in the urine.

Thanks to the kit the dietary treatments of the parents will be better managed, and couples with mutated genes will be able to have healthy babies through antenatal screening.

In general, PKU is detected through newborn screening and diagnosed by a geneticist. PKU clinics around the world provide care for PKU patients to optimize phe levels, dietary intake, and cognitive outcomes.

The kits were jointly developed by the Head of the Hacettepe University Medical Molecular Biology Department Prof. Engin Yilmaz and his associates, Assistant Professor Cetin Kocaefe and project assistant Filiz Sarikaya.

Yilmaz said when phenylketonuria was not treated with an very expensive supplement diet, could cause motor and mental disorders in kids, and could be incurable if not treated in early stages.

"We have designed a kit that can detect 12 of the 39 defined FAH gene mutations commonly seen in Turkey. When these 12 FAH gene mutations are screened, the risk factor can be determined with 80% accuracy," said Yilmaz.


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Güncelleme Tarihi: 29 Haziran 2010, 12:44

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