prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern Iran

The aim of the study was to research concerning the epidemiology of newborns' galactosemia during 2007- 2008 to find out whether screening was necessary for Iranian newborns or not and also what the symptoms of this disease before or after diet were. The data were collected from 24000 newborn babies from Fars Province, southern Iran. The enzymatic calorimetric test was done on their blood and Red questions from the children's parents. For treatment, free lactose milk or soya milk have been used for the feeding of the newborns. The prevalence of galactosemia in Fars Province was 5:24000 in neonates, being more than those reported among the white race are and Asians are. The maximum clinical symptoms before diet in 10 days after birth were vomiting and jaundice and those after using diet were sepsis, full fontanels, and hepatic failure. Consanguineous marriage is a major cause of inheritance of the disease in Iran. The number of familial marriage in children's parents was very high. Screening should be executed for all of the families with a history of Galactosemia in Iran. To the best of our knowledge, this is the first large study report on the prevalence of Galactosemia in Iran

Epidemiological and clinical study of phenylketonuria [PKU] disease in the national screening program of neonates, Fars province, southern Iran

Classic phenylketonuria [PKU] is a rare metabolic disorder that results from a deficiency of a liver enzyme known as phenylalanine hydroxylase [PAH]. In this study, we researched about PKU epidemiological factors and health quality of patients after the neonatal screening program. Neonatal screening for PKU was conducted by one neonatal screening center in Fars Province, in Shiraz Paramedical University. All Fars infants must refer only to this center, in which a heel prick blood sample of each infant was collected at 72 hours postnatal on to standard filter paper and asked questions from the children's parent's and the doctor examined the patients receiving phenylalanine- free milk through examining the children's development. PKU was screened by Fluorometric method. 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 familial marriage in these children's parents is 86.6%. Twenty nine percent of them were observed among those who had married their close relatives. Mean rate of normal development in PKU patients was 95%.Consanguineous marriage is a major cause in that pattern particular in Iranian. The treatment of PKU after newborn screening is used. With special diet in above of 90% newborn is satisfactory. Now screening should be executed for all of family that they have familial history of PKU in Iran