Medical Laboratory Scientist ASCP Practice Exam 2025 – Complete Study Guide

Question: 1 / 400

Which enzyme deficiency is associated with Tay-Sachs Disease?

N-acetyl-alpha-glucosaminidase

N-acetylbeta-hexosaminidase A

Tay-Sachs Disease is specifically linked to a deficiency in the enzyme N-acetylbeta-hexosaminidase A (Hex-A). This enzyme plays a crucial role in the metabolism of gangliosides, which are glycolipids essential for normal neuronal function. In individuals with Tay-Sachs Disease, the lack of Hex-A leads to an accumulation of GM2 ganglioside, particularly in brain nerve cells. This accumulation results in neurodegenerative symptoms, typically manifesting in infants with developmental delays, loss of motor skills, and ultimately, a profound neurological decline.

Understanding the role of N-acetylbeta-hexosaminidase A in metabolism is critical for comprehending the pathology of Tay-Sachs Disease, as it highlights the importance of enzymes in maintaining cellular function and the consequences when these enzymes are deficient.

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Hexosaminidase B

Galactocerebrosidase

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