Epidemiological and Clinical Study of Phenylketonuria (PKU) Disease in the National Screening Program of Neonates, Fars Province, Southern Iran

Background: classic phenylketonuria (pku) is a rare metabolic disorder that results from a deficiency of a liver enzymeknown as phenylalanine hydroxylase (pah). in this study, we researched about pku epidemiological factors and healthquality of patients after the neonatal screening program.methods: neonatal screening for pku was conducted by one neonatal screening center in fars province, in shirazparamedical university. all fars infants must refer only to this center, in which a heel prick blood sample of each infantwas collected at 72 hours postnatal on to standard filter paper and asked questions from the children's parent's and the doctorexamined the patients receiving phenylalanine- free milk through examining the children's development. pku was screenedby fluorometric method.results: totally of 70477 newborns screened for pku, 15- cases of pku detected with an incidence of 1:4698. in eghlid,that is a city in fars province. the prevalence of the disease is 1:382 of newly born babies. the frequency of familialmarriage in these children's parents is 86.6%. twenty nine percent of them were observed among those who had marriedtheir close relatives. mean rate of normal development in pku patients was 95%.conclusion: consanguineous marriage is a major cause in that pattern particular in iranian. the treatment of pku afternewborn screening is used. with special diet in above of 90% newborn is satisfactory. now screening should be executedfor all of family that they have familial history of pku in iran.