Epidemiology of phenylketonuria and its related factors in Kurdistan province during 2012-2014

Document Type : Original Article


1 Department of Pediatric Endocrinology, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran

2 Lung Diseases & Allergy Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran

3 Department of Biological Sciences, Faculty of Science, University of Kurdistan, Sanandaj, Iran

4 Student Research Committee, Kurdistan University of Medical Sciences, Sanandaj, Iran;

5 Social Determinants of Health Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran



Introduction: Phenylketonuria (PKU) is caused due to a genetic disorder in amino acid metabolism and, if not detected and treated in a timely manner, results in mental retardation and psychological problems due to toxic effects of phenylalanine increase in the brain. The aim of this study was to investigate epidemiology of PKU in Kurdistan province.
Methods: This cross-sectional study was conducted to determine the incidence of PKU for all newborns born in 2012-2014 in Kurdistan province. Data collection was done through medical records of patients. The prevalence and relationship between variables were analyzed using Stata 12 software.
Results:The incidence of PKU in the years 2012, 2013 and 2014 was 3.2, 2.3 and 2.9 per 10000 live births, respectively. The prevalence of PKU was higher in males than females and in the city as compared to the villages, though the differences were not significant (p> 0.05). Prevalence of PKU between consanguineous and non-consanguineous couples did not have a significant difference (p = 0.976). In this study, PKU cases were found to be higher in infants who were the first child of a family (44%).
Conclusion: The prevalence of PKU in the Kurdistan province is relatively high and the importance of PKU screening and its consequences should be taken into account in the health education curriculum development.