Evaluation of the prevalence of phenylketonuria among screened and un screened children in Baghdad

Background: A congenital genetic condition known as phenylketonemia (PKD) is defined by a malfunction in the metabolism of the amino acid phenylalanine. Delays in diagnosis and treatment can result in mental and developmental problems, making it a serious health concern. Objective: The purpose of the study was to compare children with PKD who were screened against those who were not in order to assess the efficacy of early screening programs. Methodology: A descriptive analytical approach was used to collect patient data during 2021 and 2022. Data included age at diagnosis, sex, geographic distribution, developmental outcomes, and follow-up. A 95% confidence level was applied and a P value of <0.05 was used. Results: The findings demonstrated statistically significant variations in the average age of diagnosis between screened and unscreened children, with the former having an average age of two months and the latter between 15 and 36 months. Additionally, the children who were screened at diagnosis were older (49 months) than the children who were not screened (24 and 40 months). The children who were not screened experienced issues like epilepsy, delayed walking, and mental impairment, while the majority of the screened children were female. Additionally, half of the individuals had a family history of the condition, especially among siblings, indicating a strong familial component to the illness. Conclusion: In order to improve treatment outcomes and the quality of life for individuals with phenylketonuria, early screening is essential for minimizing developmental and mental difficulties brought on by delayed diagnosis.