Which of the following is an example of a lysosomal storage disorder?

Prepare for the AAB Molecular Diagnostics Test with focused study materials and practice questions. Gain insights into questions, formats, and key topics to excel in your exam and advance your career in molecular diagnostics.

Tay-Sachs disease serves as a clear example of a lysosomal storage disorder due to its underlying mechanism involving the lysosomes. Lysosomal storage disorders are characterized by the accumulation of undigested molecules due to a deficiency in specific lysosomal enzymes. In Tay-Sachs disease, there is a deficiency of hexosaminidase A, an enzyme responsible for breaking down GM2 gangliosides. The deficiency leads to the buildup of these harmful lipids within neuronal cells, ultimately resulting in severe neurological degeneration and other health complications.

In contrast, hemophilia is a bleeding disorder caused by deficiencies in clotting factors; Alzheimer's disease is primarily a neurodegenerative disorder associated with amyloid beta accumulation; and diabetes mellitus involves issues with insulin production or response and is not related to lysosomal dysfunction. Thus, recognizing Tay-Sachs as a lysosomal storage disorder highlights the specific metabolic process involved in these rare but significant conditions.

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