Tay-Sachs disease is an 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). genetic disorder where the absence of an 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-hexosaminidase A (HexA) causes fatty substances to build up in the brain and nerve cells, which damages the brain and spinal cord.
You might see Tay-Sachs referred to as “GM2 gangliosidosis” or “GM2” in scientific literature.
There is currently no cure for Tay-Sachs, 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. of symptoms for as long as possible.
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