Which condition is caused by a deficiency in B-glucosidase?

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 associated with a deficiency in the enzyme B-glucosidase, also known as glucocerebrosidase. This enzyme is critical for the normal breakdown of glucocerebroside, a type of glycolipid found in the cell membrane. When B-glucosidase activity is reduced or absent, glucocerebroside accumulates, particularly in macrophages, leading to the characteristic pathology of the disease.

Clinically, Gaucher's disease manifests in three types, with type 1 being the most common and not associated with neurological symptoms. Patients often present with symptoms such as hepatosplenomegaly, anemia, and bone pain or crises due to bone involvement.

In contrast, other conditions mentioned are caused by deficiencies in different enzymes. For example, Krabbe's Disease involves a deficiency in galactocerebrosidase, leading to demyelination. Metachromatic leukodystrophy results from a deficiency in arylsulfatase A, which affects myelin metabolism. Niemann-Pick disease is caused by a deficiency in sphingomyelinase, rather than B-glucosidase.

Correctly identifying the link between the specific enzyme deficiency and the associated lysosomal storage disease

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