- The deficiency of the enzyme Hexosaminidase A is responsible for the development of Tay-Sachs disease.
- This is a rare, inherited neurodegenerative disorder characterized by the accumulation of GM2 ganglioside within the lysosomes of nerve cells.
- The absence or low activity of Hexosaminidase A leads to the inability to break down GM2 ganglioside, causing progressive destruction of neurons, which manifests as developmental delay, motor weakness, and eventually fatal neurological impairment.

Other enzymes mentioned, such as Sphingomyelinase, Galactocerebrosidase, and Arylsulfatase A, are deficient in different lysosomal storage diseases:
- Sphingomyelinase deficiency causes Niemann-Pick disease.
- Galactocerebrosidase deficiency is responsible for Krabbe disease.
- Arylsulfatase A deficiency leads to Metachromatic leukodystrophy.

Identifying the specific enzyme deficiency is crucial for accurate diagnosis and genetic counseling in affected families.

Reference: Robbins Basic Pathology, 10th Edition, Chapter on Diseases of Lysosomes/Page 521