tay-sachs disease

When there is a suspicion that a person might have Tay–Sachs disease, regardless of the age of onset, the initial testing starts with an enzyme assay to determine the activity of hexosaminidase in leukocytes, fibroblasts, or serum. In individuals with Tay-Sachs disease, hexosaminidase enzyme activity is decreased. After decreased hexosaminidase enzyme activity in an individual…

Tay-Sachs disease

Tay-Sachs disease (TSD) is a deathly genetic disorder, most commonly affecting children. Tay-Sachs results in the destruction of the nervous system. It is caused by the absence of an important enzyme called hexosaminidase-A (Hex-A). Without this enzyme, a fatty lipid or a fatty substance called GM2 ganglioside accumulates in cells, especially in the brain of…

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