Community-Based Insights into Phenylketonuria in Northern Iraq and Nineveh

In Iraq, prolonged conflict and disruption of health services have contributed to delayed phenylketonuria (PKU) diagnosis and limited management of affected children. A multidisciplinary task force was established to support children in Northern Iraq and Nineveh through collaboration between American dietitians and local pediatricians. This study evaluated all children diagnosed with PKU (n=19) between 2020 and 2024 in Northern Iraq and Nineveh, assessing their clinical characteristics, demographic features, and outcomes. Diagnosis was confirmed by repeatedly elevated phenylalanine concentrations in dried blood spots or plasma measured using LC-MS/MS, combined with clinical manifestations. Structured questionnaires were applied during patient follow-up to document clinical and demographic profiles. Participants ranged from one month to fifteen years of age, with male predominance and balanced representation between Iraqi Kurdish non-Yazidi and Kurdish-Yazidi groups. Consanguinity was common, particularly first-cousin marriages, and many parents had not undergone premarital medical screening. Moderate PKU predominated, followed by classic PKU. Diagnosis was frequently delayed until early childhood, with cerebral palsy being the most frequent misdiagnosis. Seizures were prevalent and often associated with cerebral palsy and microcephaly. These findings highlight the urgent need for comprehensive newborn screening and expanded metabolic care capacity in the region.