The Incidence and Clinical Presentations of Galactosemia in Fars province, South West of Iran

Abstract

Background: In this survey we studied the incidence and clinical presentations of  galactosemia in Fars province, in south west of Iran. Galactosemia is a rare genetic metabolic disorder ofgalactose. Its metabolism can be performed through 3 pathways. Although enzymes deficiencyof 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, lethargy, vomiting, poor feeding, and jaundice.

Material and method: 337000 newborns were screened for galactosemia by measuring total galactose level. Blood samples were collected from the heel on the Gauthriepaper, and thencalorimetric test with enzyme was performed to determine total galactose level. Blood galactoselevel below 4mg/dl was considered as normal and it was repeated if it was more than 4mg/dl in the first stage. The test was considered as abnormal if it was more than 5mg/dl, then blood samples 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 byhyperbilirubinemia before receiving the results, neonatal screening had an important role in the early diagnosis and management of this disease.