GM1 gangliosidosis disease (GM1) is a rare lysosomal storage diseaseLysosomal storage disease is a group of disorders that affect specific enzymes. These enzymes normally break down items for reuse in the cells. If the enzymes are missing or don't work properly the items can build up and become toxic. More where the absence of a vital 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 called beta-galactosidase (GLB1) causes fatty substances to build up in the nerve cells, which damages the brain and spinal cord.
There is currently no cure for GM1, but there are treatments and therapies to manage symptoms and maintain a baselineBaseline is a technical term for “the new normal” or how things looks when they are stable. With Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases, the baseline shifts, and often it shifts down over time like steps, where each lower step represents a lower level of functioning. More of symptoms for as long as possible.
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