mardani, fariba

[ 1 ] - T Sachs disease in two children: report two cases

Background and aim: Tachyx is a rare autosomal recessive and neurological disorder caused by glycosfenolipid accumulation (GM2 ganglioside) in cell lysosomes. The accumulation of GM2 ganglioside is due to the mutation in the beta-hexose aminase gene (HEXA), which reduces the activity and deficiency of the HEXA enzyme. The aim of this study was to report 2 cases of T.Sax disease.   Case report:...