Due to a hereditary defect on chromosome 15, the enzyme hexosaminidase A is absent The role of this enzyme is to break down the GM2 ganglioside molecule found in brain nerve cells. When this function is not fulfilled, the accumulation of a fatty substance in the brain nerve cell causes neurological disorders. This enzyme, which must be present in nerve cells, functions in cellular organels known as lysosomes.. The disease is called Tay-Sachs disease.
Interpretation:Tay-Sachs disease begins to be recognized in infants; the first symptom is an overreaction to noise, weakness, inability to perform psychomotor skills, limited mobility, muscle rigidity, loss of postural movement abilities, blindness and difficulty in swallowing. It is difficult for newborns to survive until the age of 4. The disease is typically diagnosed by a hexosaminidase A enzyme activity of less than 1%.
Sample: Arm venous blood. Nonfasting
Working day: Thursday
Result Time: 7 days 6 PM
