1.
Genetics in the 3rd Millennium. 2010; 8 (2): 2054-2057
in Persian
| IMEMR
| ID: emr-104798
ABSTRACT
Tay-Sachs disease is a rare autosomal recessive disorder of sphingolipid metabolism, caused by deficiency of enzyme beta hexosaminidase A, that leads to accumulation of GM2 ganglioside in cellular lysosomes. Clinical findings are progressive weakness, gradual loss of aquired neuromotor skills, and deterioration of intelligence from about 3 to 6 months of age, as well as seizure attacks and blindness. There is also evidence on progressive neurodegeneration. In most of the patients bilateral cherry red spot were reported on funduscopy. In this report, we present two patients with Tay-Sachs disease, which are confirmed by enzyme assay. In both of them beta hexosaminidase A activity were strongly decreased