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 hexosaminidi
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