Which condition is characterized by hexosaminidase A deficiency?

The condition characterized by hexosaminidase A deficiency is Tay-Sachs Disease. This lysosomal storage disorder occurs due to a mutation in the HEXA gene, which leads to the deficiency of the enzyme hexosaminidase A. This enzyme is crucial for the breakdown of GM2 gangliosides, a type of lipid. When hexosaminidase A is deficient, GM2 gangliosides accumulate, particularly in the nerve cells of the brain, leading to neurological damage and a range of clinical symptoms.

Individuals with Tay-Sachs Disease commonly present with developmental delays, loss of motor skills, and significant cognitive impairment. A key feature of this condition is the cherry-red spot seen on the retina during an eye examination, which is a result of ganglioside accumulation in the retina. Such symptoms typically manifest in infancy and lead to a progressive deterioration of neurological function, often resulting in early mortality.

The other conditions mentioned, while also lysosomal storage disorders, result from deficiencies in different enzymes. For example, Krabbe's Disease is caused by a deficiency in galactocerebrosidase, Niemann-Pick Disease is due to a deficiency in sphingomyelinase, and Metachromatic leukodystrophy is linked to