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
Tay-Sachs disease is caused when there is an insufficient activity of the enzyme hexosaminidaseA 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.
