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.