Molecular characterization of Galactosemia and identification of GALT gene mutations

Abstract

Classic Galactosemia is an inherited metabolic disease with life threatening symptoms in newborn. Nevertheless, early diagnosis can be managed the symptoms and mortality. The disease caused by a severe deficiency of the enzyme galactose-1-phosphate uridyl transferase. Mutations in this gene can cause a defect in this enzyme. Identification of these mutations can play an important role in early diagnosis and disease management. It is necessary to perform galactosemia screening despite difficulties and complexities. This study identified 5 different pathogenic mutations on the GALT gene in the Azerbaijanian population with galactosemia. The identification of the mutations involved in the development of CG in the Azerbaijanian population can play an essential role inearly diagnosis and intervention. The GALT gene mutations identified in this study can be used as screening markers to identify Azerbaijanian children with CG.