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Definition

noun

A type of sphingolipidosis that is often caused by a deficiency in hexosaminidase A resulting in the accumulation of GM2 gangliosides in neurons, and thereby leads to neurodegeneration, developmental disability, or even early death


Supplement

Sphingolipidosis is a collective term for the various metabolic disorders due to an abnormal sphingolipid metabolism. One of them is the Tay-Sachs disease. The disease is named after an English physician, Warren Tay, and an American neurologist, Bernard Sachs.

Tay-Sachs disease is a genetic disorder that is caused by a genetic defect that leads to the deficiency of hexosaminidase A. The insufficient production of hexosaminidase A leads to the accumulation of GM2 gangliosides in the lysosomes of neurons. This in turn leads to neurodegeneration and developmental disability. It may also be fatal by preschool age. This genetic disorder is autosomal recessive, which means the individual with Tay-Sachs disease possesses a copy of the defective gene that hampers the production of hexosaminidase A. The condition is characterized by a red spot in the retina. The individual may suffer from gradual blindness, hearing loss, seizures, and paralysis. The severe type of Tay-Sachs disease (i.e. infantile) could be fatal. Death could occur in early childhood or by preschool age. Milder form of Tay-Sachs disease may not lead to death but may manifest during later childhood or adulthood.


Synonym(s):

  • GM2 gangliosidosis
  • hexosaminidase A deficiency

See also: