A 6-year-old child was delivered to a hospital. Examination revealed that the child couldn't fix his eyes, didn't keep his eyes on toys, eye ground had the cherry-red spot sign. Laboratory analyzes showed that brain, liver and spleen had high rate of ganglioside glycometide. What congenital disease is the child ill with?

Answer options

1. Niemann-Pick disease
2. Tay-Sachs disease
3. Turner’s syndrome
4. Wilson’s syndrome
5. MacArdle disease

Explanation

Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.