National Phenylketonuria Day: Early Diagnosis Key to Managing Hereditary Disease

National Phenylketonuria Day: Early Diagnosis Key to Managing Hereditary Disease

National Phenylketonuria (PKU) Day emphasizes the importance of early diagnosis in combating this hereditary metabolic disorder, which prevents the transformation of the amino acid phenylalanine in the body. Accumulation of this substance in the blood can lead to irreversible brain damage and severe intellectual disability. However, with early diagnosis, infants can lead healthy lives through lifelong, appropriate diets.

During the first few months, infants with PKU appear indistinguishable from healthy babies. The most noticeable symptoms include intellectual and developmental delays. Vomiting, excessive hand, arm, and head movements, seizures, skin rashes, and strong odors in urine and sweat are also indicative of the disorder. In 60% of cases, patients have lighter hair, eye, and skin color compared to their parents.

Turkey has one of the highest prevalence rates of PKU globally, significantly driven by the high rate of consanguineous marriages. Annually, 200-250 new PKU cases are reported relative to the number of births.

As part of the Newborn Screening Program, the PKU screening test is conducted by taking a few drops of blood from the newborn’s heel. This allows for the early detection of the disease, ensuring timely access to treatment for the infants.

Health Minister Fahrettin Koca emphasized the significance of the program, stating, “To families with PKU-affected infants and adults, we want to reaffirm our support. I also urge prospective parents to recognize the importance of the Newborn Screening Program. Early steps taken right after birth can pave the way for a healthier life for the babies.”