Molecular Characterization of Galactosemia: Identification of Six Novel GALT Gene Mutations

Background: Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a deficiency the enzyme galactose-1-phosphate uridyltransferase (GALT). This causes conversion uridine diphosphate- glucose (UDP)-glucose and (Gal-1-P) to glucose-1-phosphate UDP-galactose. The absence this results in accumulation metabolites galactitol Gal-1-P. CG heterogeneous at clinical molecular levels. Objectives: study provides some data for investigation introduction new mutations GALT gene that involved cause Iranian population. Methods: In cross-sectional study, 31 newborns diagnosed with were investigated Tehran province, Iran, from March 2014 December 2019. polymerase chain reaction sequencing method was used analyze gene. Results: sequence showed 11 pathogenic on gene, including five exon 10, two 9, 5, one mutation 6, 7. Moreover, six identified population, namely c.442C>T (R148W), c.881T>A (F294Y), c.997C>T (R333W), c.940A>G (N314D), c.1030C>A (Q344K), c.1018G>A (E340K). Other c.563A>G (Q188R), c.855G>T (K285N), c.626A>C (Y209S), c.404C>T (S135L), c.958G>A (A320T). most common p.Q188R (51.6%), K285N (9.67%), E340K R148W (6.45%). Conclusions: different population galactosemia. identification development can play important role early diagnosis intervention. be as screening markers identify children CG.