One in every 25 people in Türkiye is a phenylketonuria carrier

According to the statement made by the Ministry of Health , Turkey is among the countries where phenylketonuria, a hereditary disease that causes damage to brain tissue, is frequently seen.

Approximately one baby in every 6,200 live births is born with phenylketonuria, and it is stated that approximately one in every 25 people in Türkiye is a carrier.

Screening for phenylketonuria, which was first initiated in 1987 in Türkiye, is continuing in all provinces within the scope of the National Newborn Screening Program established in 2006.

IT CAN BE DETECTED AT AN EARLY STAGE WITH SCREENING TESTS

Thanks to the quick and easy screening test offered free of charge within the scope of the National Newborn Screening Program, the disease can be detected at an early stage with a few drops of heel blood taken from the baby.

Babies suspected of having a disease as a result of screening tests are directed to clinics where there is a specialist in pediatric metabolic diseases. A definitive diagnosis is made after further examinations in these clinics. The screening test result can be learned from the family doctor or the mother's e-Pulse account. In cases where there is a suspicion of disease or a need to take a sample again, the family is contacted by health personnel as soon as possible and informed.

IT CAN CAUSE AUTISM IN UNTREATED CHILDREN

Symptoms of PKU usually begin in the first few weeks after birth, but if the disease is not diagnosed and treated early, it becomes apparent over time.

In untreated children, speech delay, delay in sitting and walking, hyperactivity, autism , aggressive behavior and convulsions can be seen. The baby's skin color, hair and eyes may be lighter than normal.

SIX DISEASES ARE BEING SCREENED

Within the scope of the National Newborn Screening Program, six diseases are screened: "Phenylketonuria, Congenital Hypothyroidism, Biotinidase Deficiency, Cystic Fibrosis, Congenital Adrenal Hyperplasia, Spinal Muscular Atrophy".

Studies are ongoing on diseases that can be added to the screening panel.