Raising Awareness on Phenylketonuria: June 1 National Phenylketonuria Day
Phenylketonuria, an inherited metabolic disorder, results from the body’s inability to convert the amino acid phenylalanine, leading to its accumulation in the blood and potential severe brain damage. If not diagnosed early, it can cause severe mental retardation; however, early diagnosis and a proper diet can enable a healthy life.
Babies with phenylketonuria appear indistinguishable from healthy babies during the first few months of life but manifest symptoms such as cognitive and developmental delays in subsequent months. Other symptoms include vomiting, excessive hand and arm movements, seizures, skin rashes, and a musty odor in urine and sweat. Approximately 60% of cases show lighter hair, eye, and skin color compared to their parents.
One reason Turkey ranks among the countries with the highest incidence of phenylketonuria is the high rate of consanguineous marriages. Based on the expected birth rate, 200-250 new phenylketonuria cases are recorded annually.
The Newborn Screening Program employs a few drops of blood taken from a baby’s heel to test for phenylketonuria and provides early diagnosis and treatment access.
Health Minister Fahrettin Koca emphasized their full support for families with babies diagnosed with phenylketonuria and adults carrying this condition. He reminded prospective parents of the importance of the Newborn Screening Program, which ensures necessary steps are taken for a healthier life for babies right after birth.