DOI: 10.36347/sjmcr.2014.v02i05.011

Pages: 342-344

Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose-1-phosphate uridyl transferase (GALT) enzyme. We report on a case of classical galactosemia where the diagnosis was masked by the presence of non-specific manifestations suggesting lactose intolerance. Genetic analysis of the index patient for galactosemia revealed presence of Q188R mutation in exon 6 of GALT gene in heterozygous state. This case exemplifies the problems faced in reaching a correct diagnosis in patients with metabolic diseases demonstrating the importance of molecular genetics in correctly identifying galactosemia which may be lifesaving as treatment simply involves instituting a galactose free diet throughout life.