High risk of birth defects with PKU in Mast-e Ali village, Kermanshah province

According to the study conducted on phenylketonuria (PKU) patients in Kermanshah province, there were at least 10 PKU patients in Firuzabad district. The prevalence of the disease and frequency of carriers among the population of Mast-e Ali village, a village in Firuzabad district, were calculated to be 1 in 80 and 1 in 5, respectively. This is one of the highest frequencies reported for the prevalence of PKU to date. These findings introduce Mast-e Ali village as a small region in the high risk of birth defects with PKU. It seems that consanguinity has had a major impact on these findings.