Some Evidence for Several Onset Levels
GM2 activator protein deficiency is an ultra-rare disease with less than 30 patients ever reported worldwide.
Some evidence does exist indicating that there may be three forms of this disease, including infantile, juvenile, and late-onset, similarly to Tay-Sachs disease.
What is GM2 Activator Protein Deficiency?
GM2 activator protein deficiency, commonly referred to as GM2 AB Variant, is an extremely rare autosomal recessive lysosomal storage disorder caused by deficiency of the GM2 ganglioside activator protein, due to variants (mutations) in the GM2A gene. The GM2A gene encodes the GM2 ganglioside activator, which is required for the lysosomal enzyme beta-hexosaminidase A (HexA) to break down GM2 ganglioside.
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