Question

Tay Sachs is an inherited disorder. What deficiency is associated with Tay Sachs?

1) Enzyme deficiency
2) Vitamin deficiency
3) Calcium deficiency
4) Mineral deficiency

Answer 1

Tay Sachs disease is associated with an enzyme deficiency, specifically a deficiency of Hexosaminidase A, which leads to the accumulation of sphingolipids in the brain and destruction of neurons.

Step-by-step explanation:

The deficiency associated with Tay Sachs disease is an enzyme deficiency. Specifically, it is a deficiency of the enzyme called Hexosaminidase A (Hex-A). This enzyme is crucial for breaking down fatty substances called sphingolipids in nerve cells in the brain. Without Hex-A, these substances accumulate to toxic levels, leading to the destruction of neurons and resulting in the severe symptoms of Tay Sachs.

Children affected by Tay Sachs inherit a defective gene from each of their parents, which means Tay Sachs is an autosomal recessive disorder. Both parents must be carriers of the faulty gene for there to be a risk of their child having the disorder. If both parents are carriers, there is a 25% chance that their child will inherit the disorder.

Furthermore, certain populations, such as Ashkenazi Jews, have a higher prevalence of Tay Sachs carriers, leading to a higher incidence of the disorder within this group. It's important for at-risk couples to receive genetic counseling to understand the risks and implications of potentially passing this disorder to their children.