GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations

Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features children with GM2 gangliosidoses.
 Materials Methods: file records 14 patients diagnosed gangliosidoses in our were retrospectively reviewed. was confirmed by determining levels serum total hexosaminidase β-hexosaminidase activity genetic analysis. 
 Results: We identified a seven different mutations, three which novel (one HEXA gene two HEXB gene) patients. found high frequency c.1100_1111del (p.Gly367_Tyr370del) mutation affected mean age at 13.46.3 months 14.24.2 for Tay–Sachs disease (TSD) Sandhoff (SD) respectively. Neuroregression present 92.9% Of patients, 11 had epilepsy, 10 developmental delay, 6 hyperacusis, cherry-red spots macrocephaly, but none organomegaly. Conclusion: should be considered regression and/or delay. For early diagnosis, enzyme analysis detection performed suspected presence clinical findings.