Its late-onset form, called LOTS, is not fatal, but its infantile and juvenile varieties are. Its symptoms resemble Sandhoff disease, but it is caused by a mutation on chromosome 15 rather than 5. Reduced activity of the enzyme hexosaminidinase A, ca
Its late-onset form, called LOTS, is not fatal, but its infantile and juvenile varieties are. Its symptoms resemble Sandhoff disease, but it is caused by a mutation on chromosome 15 rather than 5. Reduced activity of the enzyme hexosaminidinase A, caused by a mutation in the HEXA gene, leads to accumulation of the ganglioside GM2 in the brain's neurons. This autosomal recessive disease causes the appearance of a cherry-red spot on the retina. Other symptoms include an inability to swallow as well as blindness, deafness, and paralysis. For 10 points, name this lysosomal storage disorder which is usually fatal by age 5 and is most common in Ashkenazi Jewish populations.
Its late-onset form, called LOTS, is not fatal, but its infantile and juvenile varieties are.
{Tay}-{Sachs} disease