01.06.2025 16:40
The Ministry of Health announced that approximately one in every 25 people in Turkey is a carrier of phenylketonuria. Phenylketonuria is known as a hereditary disease that causes damage to brain tissue, and each year, about one baby is born with this condition for every 6,200 live births. Thanks to the National Newborn Screening Program, the disease can be detected at an early stage.
The Ministry of Health stated that approximately one in every 25 people in Turkey is a carrier of phenylketonuria (PKU).
ONE IN EVERY 25 PEOPLE CARRIES THIS DISEASE
According to a statement from the ministry, Turkey is among the countries where phenylketonuria, a hereditary disease that causes damage to brain tissue, is frequently seen. It is reported that approximately one baby is born with phenylketonuria for every 6,200 live births, and that about one in every 25 people in Turkey is a carrier.
EARLY DETECTION THROUGH SCREENING TESTS
Screenings for phenylketonuria, which were first initiated in Turkey in 1987, are being conducted in all provinces under the National Newborn Screening Program established in 2006. Thanks to the rapid and easy screening test offered free of charge under the National Newborn Screening Program, the disease can be detected early with just a few drops of heel blood taken from the baby.
Babies suspected of having the disease as a result of screening tests are referred to clinics with pediatric metabolism disease specialists. A definitive diagnosis is made based on advanced examinations conducted in these clinics. The results of the screening test can be learned from the family doctor or the mother's e-Nabız account. In cases of suspected disease or when a repeat sample is needed, health personnel will contact the family as soon as possible to provide information.
CAN LEAD TO AUTISM IN UNTREATED CHILDREN
Symptoms of PKU generally begin in the first few weeks after birth, but the disease becomes apparent over time if an early diagnosis is not made and treatment is not administered. In untreated children, delays in speech, sitting, and walking, hyperactivity, autism, aggressive behaviors, and seizures can be observed. The baby's skin color, hair, and eyes may be lighter than normal.
Under 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 regarding diseases that can be added to the screening panel.