Molecular Heterogeneity of Classical and Duarte Galactosemia

Abstract

For the first time we have conducted molecular-genetic analysis of GALT gene of galactosemia inherited disease in the newborn blood which found at the result of screening conducted maternity houses of Baku city of Azerbaijan Republic. For Azerbaijan people for the first-time identification of substitution of adenine nucleotide with guanine nucleotide in GALT gene position 563 was conducted. It leaded to substitution of glycineamino acid with arginine amino acid in position 188 of mutation protein. Galactosemia is an alteration that alters the way the body processes galactose. It may be due to a deficiency of any of the three enzymes of the galactose catabolic pathway; galactose-1- phosphate urydiltransferase (Gal-1-PUT), galactokinase or urydil diphosphate (UDP)- galactose-4-epimerase. Individuals having galactosemia are intolerant to lactose and galactose in milk. In the lack of proper diagnosis and treatment, this disorder can lead to enlarged liver, cirrhosis, renal failure, cataracts, brain damage and even death. Long term complications can be prevented with early diagnosis following birth and by eliminating lactose and galactose containing nutrients from daily diet.