An autosomal recessive disorder characterized by an inability to properly break down certain glycolipids. Accumulation of the lipids in brain cells causes progressive nervous system dysfunction and is usually fatal by age four.Group of answer choicesTay-Sachs diseasesickle-cell diseasecystic fibrosisHuntington’s diseaseNext
Question
An autosomal recessive disorder characterized by an inability to properly break down certain glycolipids. Accumulation of the lipids in brain cells causes progressive nervous system dysfunction and is usually fatal by age four.Group of answer choicesTay-Sachs diseasesickle-cell diseasecystic fibrosisHuntington’s diseaseNext
Solution
The disorder described is Tay-Sachs disease. This is an autosomal recessive genetic disorder, which means it occurs when a child inherits two copies of an abnormal gene, one from each parent. In Tay-Sachs disease, harmful quantities of a fatty substance called GM2 ganglioside accumulate in the nerve cells in the brain because of a deficiency of the enzyme hexosaminidase A. This leads to the progressive dysfunction of
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There is a lack of lysosomal enzymes that normally break down specific lipids.
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