Question

A jewish couple that is trying to conceive ask the nurse if they should receive genetic counseling. the nurse is aware that an autosomal recessive disorder that causes a deficiency in hexosaminidase a may be present. what disorder should the couple be tested for

Answer 1

Answer: Tay- Sachs disease

Step-by-step explanation:

• Tay-Sachs disease is caused when there is an insufficient activity of the enzyme hexosaminidase A which is an important enzyme present in the lysozyme.
• The function of the enzyme hexosaminidase A is to breakdown the sphingolipids. However, when there is a deficiency of this enzyme, the lipids start accumulating in the brain and cause several problems such as seizures, hearing loss etc.
• The hexosaminidase A activity test is done to confirm the carriers of this disease.