Which genetic disorder is linked to a deficiency of glucocerebrosidase?

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 directly linked to a deficiency of the enzyme glucocerebrosidase. This enzyme is responsible for the breakdown of glucocerebroside, a fatty substance. When glucocerebrosidase is deficient, glucocerebroside accumulates in various tissues, particularly in macrophages. This accumulation leads to the characteristic symptoms of Gaucher's disease, which include hepatosplenomegaly, bone pain or fractures, and sometimes neurological complications.

The other disorders mentioned are caused by deficiencies of different enzymes. Fabry disease is associated with a deficiency of alpha-galactosidase A, Hurler syndrome is due to a deficiency in iduronidase, and Pompe disease is caused by a deficiency of acid alpha-glucosidase. Each of these disorders has its own distinct pathophysiology and clinical manifestations, which are not related to glucocerebrosidase or Gaucher's disease.

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