Hexosaminidase A deficiency causes:
Correct Answer: Tay-Sachs disease
Description: Ans: b. Tay-Sachs disease [Refs Harper 30th/251; Lippincott 6th/212; Harrison 19th/432e,433eHexosaminidase A deficiency is an enzyme deficiency that causes brain and other nerve cells to die, which can lead to severe neurological and mental problems.Hexosaminidase A (HEX A) deficiency is caused by a deficiency in an enzyme called beta-hexosaminidase A. This enzyme helps break down a paicular fatty acid called GM2 ganglioside.Without adequate amounts of functional enzymes, GM2 ganglioside will build up in nerve cells and cause them to die.There are several forms of HEX A deficiency, including acute infantile (Tay-Sachs disease), juvenile, chronic, or adult-onset forms.
Category:
Biochemistry
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