AHPGS(Accreditation Agency in Health and Social Sciences)
16 June 2025 Monday
June 1 National Phenylketonuria (PKU) Day: Nurses as the Silent Heroes of Early Diagnosis
Research Assistant Dilara CENGIZLI from Istanbul Gelisim University Faculty of Health Sciences, Department of Nursing, shared information about National Phenylketonuria Day.
National Phenylketonuria Day, celebrated every year on June 1, aims to raise awareness in society and improve the quality of life for individuals living with this disease. On this special day, nurses, who play a vital role in the fight against Phenylketonuria (PKU), are an indispensable part of the process.
What is PKU?
Phenylketonuria is a genetic metabolic disorder caused by the body's inability to break down and eliminate an amino acid called phenylalanine, which is found in proteins. The accumulation of phenylalanine can negatively affect brain development over time, leading to irreversible neurological damage, behavioral disorders, and developmental problems.
Early Diagnosis Saves Lives
PKU can be detected by the newborn heel-prick test performed within the first 48-72 hours after birth. In Turkey, phenylketonuria screening is carried out as part of a national child health program conducted through the collaboration of the Ministry of Health and university hospitals. This program has been implemented since 1986 and has gradually expanded to more cities and is now actively carried out in all major metropolitan areas.
Thanks to this early diagnosis, children can live healthy lives with a special diet. However, the effectiveness and follow-up of this process are mainly carried out with the contributions of healthcare professionals, especially nurses.
The Role of Nurses in the PKU Process
Nurses take an active role in many aspects of fighting phenylketonuria:
Implementation of Screening Programs: Nurses are responsible for collecting heel blood samples from newborns, properly labeling them, and sending them to the laboratory.
Family Education: After diagnosis, nurses guide families on the importance of a special diet, basic information about the disease, and long-term follow-up plans.
Monitoring and Follow-up: They maintain continuous communication with families regarding diet adherence, developmental assessments, and regular check-ups.
Psychosocial Support: Nurses provide moral support and guidance to families struggling to cope with the diagnosis process.
Society Must Be Aware; Every Baby Should Be Tested
Highlighting that PKU is a preventable cause of intellectual disability, expert nurses call on families, saying, “Every baby should start life equally. Screening tests cannot be neglected.”
What Can We Do Today?
Inform your relatives who have recently given birth about the importance of screening tests.
Share content that raises awareness about metabolic diseases in society.
If you are a healthcare worker, organize educational brochures, seminars, or social media activities on this subject.
