Question

Infantile amaurotic idiocy (Tay-Sachs disease) is

• A. The result of severe protein deficiency in diet and damages the muscle development in growing children
• B. An inherited disorder in which the spinal cord and brain are severely damaged within a few months of birth leading to paralysis and mental retardation, and finally the infant's death in 3 or 4 years
• C. A genetic abnormality which appears at the age of 25-30 years and damages the bones
• D. A chromosomal disorder in young children

Answer 1

The correct option is B

An inherited disorder in which the spinal cord and brain are severely damaged within a few months of birth leading to paralysis and mental retardation, and finally the infant's death in 3 or 4 years

Infantile amaurotic idiocy is a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe. This disorder is characterised by the accumulation of lipids in nervous tissues resulting in the destruction of nerve cells in the brain and spinal cord, thereby, resulting in the death of the patient in early childhood. It is caused by the deficiency of hexosaminidase A enzyme in tissue.