What type of enzyme deficiency characterizes Tay Sachs disease?

Tay Sachs disease is characterized by a deficiency in the enzyme hexosaminidase A, which is crucial for the breakdown of certain lipids in the brain, specifically GM2 gangliosides. In individuals with this deficiency, GM2 gangliosides accumulate to toxic levels, particularly in the nerve cells, leading to neurological symptoms and progressive deterioration of motor and cognitive functions. This accumulation is due to the inability of hexosaminidase A to properly catalyze the cleavage of N-acetylgalactosamine from GM2 gangliosides.

Understanding this enzymatic failure provides insight into the pathology of Tay Sachs and its genetic inheritance. The disease is inherited in an autosomal recessive manner, meaning that both parents must carry one copy of the defective gene for a child to be affected. Overall, the specific deficiency in hexosaminidase A is central to the diagnosis and understanding of Tay Sachs disease, distinguishing it from conditions associated with other enzymes like amylase, pepsin, or catalase.