Yazd, Iran – Marking World Phenylketonuria (PKU) Day on June 28, the Vice President for Health Affairs at Shahid Sadoughi University of Medical Sciences highlighted the vital role of newborn screening in preventing the serious complications associated with this rare inherited metabolic disorder.
Dr. Masoud Sharifi explained that phenylketonuria (PKU) is a genetic condition in which the body cannot properly break down the amino acid phenylalanine. Without early diagnosis and treatment, the accumulation of phenylalanine can lead to irreversible brain damage and intellectual disability.
According to Dr. Sharifi, the prevalence of PKU in Yazd Province is approximately 3 cases per 10,000 live births. He emphasized that newborn screening during the first days of life enables early detection and timely intervention, significantly reducing the risk of lifelong complications.
The University currently provides comprehensive, free-of-charge specialized care to 57 identified PKU patients and their families through the Inherited Metabolic Disorders Clinic at the Haji Maqsoudi Comprehensive Health Center. The multidisciplinary team includes a pediatric endocrinologist, nutritionist, mental health specialist, genetic counselor, and laboratory expert, ensuring coordinated long-term care for affected children.
Dr. Sharifi noted that World PKU Day also serves as an opportunity to recognize the dedication of families caring for children with PKU. He acknowledged the considerable emotional, practical, and financial challenges they face—particularly the ongoing need for specialized dietary management—and reaffirmed the University’s commitment to supporting patients through accessible healthcare services, early diagnosis, and continuous follow-up care.