Which of the following is a type of lysosomal storage disease?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Gaucher's disease is indeed classified as a lysosomal storage disease. This condition is caused by a deficiency in the enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside within lysosomes. The buildup of this substrate primarily affects macrophages, transforming them into Gaucher cells characterized by their crumpled-tissue paper appearance. This results in a variety of symptoms, including hepatosplenomegaly, bone pain, and an increased risk of certain blood disorders.

Furthermore, the classification of Gaucher's disease aligns with the broader category of lysosomal storage diseases, which are characterized by the accumulation of undegraded substrates due to enzyme deficiencies. Other examples of lysosomal storage diseases include Pompe disease, Fabry disease, and mucopolysaccharidosis, each involving different enzymatic deficiencies and presenting with distinct clinical manifestations. However, the specific selection of Gaucher's disease highlights its well-documented association with lysosomal dysfunction.

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