What is the enzyme deficiency associated with Tay-Sachs disease?

Tay-Sachs disease is primarily caused by a deficiency in the enzyme beta-hexosaminidase A. This enzyme plays a critical role in the breakdown of GM2 gangliosides, which are complex lipids found in the nerve cells. When beta-hexosaminidase A is deficient, GM2 gangliosides accumulate in the nerve cells, leading to a progressive neurodegenerative disorder that manifests during infancy. Symptoms often include developmental delays, loss of motor skills, and increased startle response, ultimately leading to severe cognitive and physical impairments.

The understanding of this specific enzyme's role in lysosomal metabolism is crucial in diagnosing and managing Tay-Sachs disease. Early recognition of the condition can lead to genetic counseling and support for affected families. In contrast, the other enzymes mentioned are associated with different conditions and are not related to the pathology of Tay-Sachs.