the incidence and clinical presentations of galactosemia in fars province, south west of iran

background:  in this survey we studied the  incidence and clinical  p resentations of  galactosemia in fars province, in south  w est of iran .  galactosemia is a rare genetic metabolic disorder  of galactose.   its  metabolism can be  performed  through 3 pathways.  although  enzymes  deficiency of each of them  can lead to galactose accumulation in plasma, the term galactosemia  is specifically used for   udp-galactose uridyl transferase   ( galt )  deficiency.   classical galactosemia (g/g)  is mostly manifested by  poor growth , irritability, leth argy, vomiting,  poor feeding ,  and   jaundice. material and method:   337000 newborns were screened for galactosemia by measuring total galactose level.   blood sample s  were collected from the heel on the gauthriepaper,  and then calorimetric test with enzyme was performed to determine total galactose level.   blood  galactose level below 4mg/dl  was  considered  as  normal and it was repeated if it was more than 4 mg/dl in the first stage. t he test  was  considered  as  abnormal if it was more than 5mg/dl,   then blood sample s were   collected on filter paper and dried for 3-4 hours at room temperature and shipped frozen to laboratory for detection of galt activity and galactose and galactose-1-phosphate. results:   from   those who  were gone for screening ,  105 newborns had total galactose level more than 5mg/dl,  among them,   37 patients had galactose level more than 15   mg/dl.   overall 12 cases were considered as classic galactosemia with an incidence rate of 1/28000,   in fars province. conclusion:   although all of our patients were symptomatic and were admitted  by hyperbilirubinemia  before receiving the results ,   neonatal screening had an important role in the early diagnosis and management of this disease.