What type of disorders are caused by mutations in lysosomal enzymes?

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.

Mutations in lysosomal enzymes lead to lysosomal storage disorders, which are a group of inherited metabolic conditions. These disorders occur when the lysosomes, the cell's waste disposal and recycling system, do not function properly due to the absence or deficiency of specific enzymes required to break down various biomolecules.

When these enzymes are mutated, they can't adequately digest certain substrates, causing a buildup of undigested materials within the lysosomes. This accumulation can disrupt normal cellular function, leading to a variety of symptoms depending on the specific disorder and the substrates that accumulate. For example, conditions such as Gaucher disease, Tay-Sachs disease, and Pompe disease are categorized as lysosomal storage disorders.

Recognizing that lysosomal storage disorders directly stem from lysosomal enzyme mutations highlights the significance of enzyme function in maintaining cellular health and the consequences of genetic defects on enzymatic activity. Other categories, such as infectious diseases, autoimmune disorders, and cancer, are not caused specifically by mutations in lysosomal enzymes, which reinforces the correctness of identifying lysosomal storage disorders as the relevant answer.

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