Tay–Sachs disease
Rare, severe disease of lysosomal storage
Tay–Sachs disease
Tay–Sachs disease is an inherited fatal lysosomal storage disease 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 the age of three to six months, with the infant 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. Less commonly, the disease may occur later in childhood, adolescence, or adulthood (juvenile or late-onset). These forms tend to be less severe, but the juvenile form typically results in death by the age of 15. Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes a subunit of the hexosaminidase enzyme known as hexosaminidase A. It is inherited 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...
Read on Wikipedia · Image Jonathan Trobe, M.D., CC BY 3.0
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