There is Some Evidence for Several Onset Levels of GM2 Activator Protein Deficiency
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 recessiveDescribes a trait or disorder requiring the presence of two copies of a gene mutation at a particular locus in order to express observable phenotype; specifically refers to genes on one of the 22 pairs of autosomes (non-sex chromosomes). More lysosomal storage disorder caused by deficiency of the GM2 gangliosideA fatty substance or lipid that is part of normal metabolism, in Tay-Sachs and Sandhoff lack of enzyme function causes the GM2 gangliosides to accumulate which is toxic and eventually causes cell death. Tay-Sachs and Sandhoff are known collectively as GM2. More activator protein, due to variants (mutations) in the GM2A geneOften referred to as the "unit of heredity." A gene is composed of a sequence of DNA required to produce a functional protein. More. The GM2A gene encodes the GM2 gangliosideAny of a group of glycolipids that yield a hexose sugar on hydrolysis and are found especially in the plasma membrane of cells of the gray matter. Definition from: Merriam-Webster's Medical Dictionary http://www.m-w.com/ by Merriam-Webster Inc. More activator, which is required for the lysosomal enzymeAccording to Genome.gov, an enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. More beta-hexosaminidase A (HexA) to break down GM2 ganglioside.
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