Incidence of Phenylketonuria in Southern Khorasan (2012- 2014): Short Communication

Phenylketonuria (PKU., OMIM261600) is the most common genetic disorder autosomal recessive mode of inheritance and the metabolism of amino-acids, which is due to deficiency of the liver enzyme phenylalanine - hydroxylase as a result of mutations in the gene encoding it is achieved. The present study aimed at investigating the incidence of PKU n the South Khorasan province between June 2012 and June 2014. This study uses data from a national screening for phenylketonuria in South Khorasan Province was conducted. The present study was a retrospective descriptive one. Our data gathering tool included a researcher designed questionnaire and sampling consisted of all live births in the South Khorasan Province from June 2012 to June 2014. Finally, all the data was analyzed using the software SPSS version18.0. The total population screened was 30,368 people. Frequency of confirmed cases was 32 females and 1 male, whose parents were relatives. Incidence of mental retardation in the newborns was zero at the screening time. Incidence of the mentioned disease in Iranian subjects of the province was 0.996:10000 and in all the births, i.e both Iranians and the Afghans, it was0.987: 100000. Occurrence of the disorder in Ghaen was 3.68: 10000; and in the rest of the cities of the province equal to zero. The results show that the incidence of phenylketonuria in the South Khorasan isvery low between 2012 and 2014, although there are considerable numbers of suspected cases. Therefore, continuing of the national screening program of newborns at birth is particularly important.