Phenylketonuria (PKU) is a hereditary metabolic disorder where the body cannot convert the protein component phenylalanine, leading to its accumulation in the blood and potential irreversible brain damage. If the disease is not diagnosed and treated early, it can result in severe mental retardation. However, early diagnosis allows infants to lead a healthy life with the appropriate diet.
Patients with PKU are indistinguishable from healthy infants in the first few months of life. The importance of early diagnosis lies in the fact that symptoms appear later. These symptoms include mental and developmental delays, vomiting, excessive hand, arm, and head movements, seizures, skin rashes, and a musty odor in urine and sweat. About 60% of PKU patients may have lighter hair, eyes, and skin compared to their parents.
The prevalence of PKU is notably high in Turkey. The high rate of consanguineous marriages contributes to the frequency of the disease in the country. Around 200-250 new cases of PKU are diagnosed each year.
Under the Neonatal Screening Program, the PKU screening test is performed using a few drops of blood taken from the baby’s heel. This allows for expedited treatment access for infants diagnosed early.
Minister of Health Fahrettin Koca stated, “I want to assure families with PKU infants and adults with the disease that we are always here for them. I also want to remind prospective parents of the importance of our Neonatal Screening Program. Through this program, necessary steps for healthier lives of babies can be taken immediately after birth.”
Koca emphasized the significance of the Neonatal Screening Program and urged families to be vigilant and not neglect these tests.
Source: Republic of Turkey Ministry of Health