تشخيص بيو شيميايي و تعيين جهشهاي شايع در بيماري گالاكتورمي

Biochemical Diagnosis of Common Gene Mutations in Galactosemia

Objective:Galactosemia is an inborn error of galactose metabolism that is inherited in an autosomal recessive trait. Classical galactosemia is caused by deficient activity of the galactose- 1 -phosphate uridyltransferase (GALT) enzyme that can result in galactosemia complications. Materials & Methods:135 unrelated families, clinically suspected to galactosemia, were screened by qualitative measurement of galactose-I -phosphate uridyl transferase (GALT) activity in blood RBCs by using Beutler method. Results:Deficient enzyme activity (classical galactosemia) were confirmed in 16 families. All of these 16 families were submitted to the diagnosis of six common mutations in GALT gene including Q188R, K285N, S 135L, L195P, X380R and Q 169K by using PCR-RFLP method which resulted in detection of 68% of the mutated alleles. Eight patients were homozygote for Q188R mutation, while one patient homozygote for S135L mutation and one heterozygote for K285N mutation. Conclusion: Biochemnical diagnosis of Galactosemia in Grand infant hospital is very important and necessary.