Diagnosis:
A type of lysosomal storage disease. Also a sphingolipidosis.
Subtypes:
Tay-Sachs disease: hexosaminidase A gene mutation, HEXA gene chr. 15q, encodes the alpha subunit
Sandhoff disease: hexosaminidase B gene mutation, HEXB gene chr. 5q, encodes the beta subunit
AB variant a.k.a. GM2 activator deficiency: GM2A gene chr. 5q, encodes activator protein