The mother of a 6-month-old would like to have her child tested for Tay-Sachs disease because of a family history of this inherited disorder.Which test would be most appropriate for this purpose?
A)Homovanillic acid (HVA)
B)5-Hydroxyindoleacetic acid (5-HIAA)
C)Homocysteine and methylmalonic acid
D)Hexosaminidase A and B

Question

Quizplus · Accepted Answer

The appropriate test for Tay-Sachs disease is to measure the activity of the enzyme hexosaminidase A and B. Tay-Sachs disease is caused by mutations in the HEXA gene, which codes for the alpha subunit of hexosaminidase A. A deficiency in hexosaminidase A leads to the accumulation of ganglioside GM2, which causes progressive damage to the nervous system. Measurement of hexosaminidase A and B activity can identify carriers and affected individuals. The other tests listed are not specific for Tay-Sachs disease.

The Mother of a 6-Month-Old Would Like to Have Her