Tay Sachs Disease | Lysosomal Storage Disorder

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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.The most common form is infantile Tay–Sachs disease, which becomes apparent around three to six months of age, with the baby losing the ability to turn over, sit, or crawl.This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of three to five.

Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes form a subunit of the hexosaminidase enzyme known as hexosaminidase A.It is inherited from a person's parents in an autosomal recessive manner. The mutation disrupts the activity of the enzyme, which results in the build-up of the molecule GM2 ganglioside within cells, leading to toxicity. Diagnosis may be supported by measuring the blood hexosaminidase A level or genetic testing.Tay–Sachs disease is a type of GM2 gangliosidosis and sphingolipidosis.
Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy. The affected child would have received a mutated copy of the gene from each parent.If one parent has this Genetic disorder and is passed down to the child, then the child becomes a carrier.

Tay–Sachs results from mutations in the HEXA gene on chromosome 15, which encodes the alpha-subunit of beta-N-acetylhexosaminidase A, a lysosomal enzyme. By 2000, more than 100 different mutations had been identified in the human HEXA gene.[15] These mutations have included single base insertions and deletions, splice phase mutations, missense mutations, and other more complex patterns. Each of these mutations alters the gene's protein product (i.e., the enzyme), sometimes severely inhibiting its function.