This disease is caused by a mutation of a gene on chromosome 15, which causes an enzyme that breaks down fatty acids to become less active.
The presence of hepatosplenomegaly can help distinguish the closely-related Sandhoff disease from this disease. This disease is caused by a mutation of a gene on chromosome 15, which causes an enzyme that breaks down fatty acids to become less active. The reduced activity of the enzyme hexosaminidinase A is caused by a mutation in the HEXA gene, and the buildup of ganglioside inhibits neurons in the brain. One characteristic symptom of this disease is a red spot on the retina. For 10 points, name this autosomal recessive disorder that is common among Ashkenazi Jews.
The presence of hepatosplenomegaly can help distinguish the closely-related Sandhoff disease from this disease.
Tay-Sachs disease