Question

___________ is an autosomal recessive disorder that is more common in people of Jewish descent. It involves a lysosomal dysfunction where they lack the enzyme Hex A.

Answer 1

Answer:

Tay Sachs

Explanation:

Tay Sachs is a neurodegenerative disorder caused by the deficiency of enzyme hexosaminidase A in lysosome. Lysosome is responsible for degradation of lipid molecules which it carries out by the help of hexosaminidase A enzyme. In absence of the functional enzyme, lipids build up in lysosome which ultimately damages the cell and the tissue. Nerve cells are damaged the most in this disorder.

It is an autosomal recessive disorder which means that the mutant allele must be present in two copies for the production of symptoms. Symptoms are hypotonia, psychomotor regression etc. Its frequency is much higher in Jewish people of Ashkenazi descent. 1 in 30 Ashkenazi Jewish people has the mutant version of the gene.