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Gaucher's disease

Summary of Gaucher's disease
Gaucher's disease is a lysosomal storage disorder characterized by deficiency of the enzyme glucocerebrosidase and subsequent glucocerebroside accumulation, particularly in white blood cells and macrophages (mononuclear leukocytes) as well as the spleen, liver, kidneys, lungs, brain, and bone marrow.


Gaucher's disease


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High Yield Notes
6 pages

Gaucher's disease

13 flashcards

USMLE® Step 1 style questions USMLE

3 questions

USMLE® Step 2 style questions USMLE

1 questions

A 45-year-old woman presents to her physician complaining of intense hip and leg pain.  The pain is severe enough to limit movement and wake her from sleep. Upon physical exam, severe hepatomegaly and splenomegaly are noted.  Blood is drawn and a complete blood count obtained:

RBCs: 3*106 cells/microliter (normal 3.8-5.3*106/uL)
WBCs: 3.8*103 cells/microliter (normal 4.5-11 *103/uL)
Platlets: 50*103 /microliter (normal 150-440 *103/uL)
Hematocrit: 33% (35-47%)
Hemoglobin:  10 g/dL (normal 11.7-16.0 g/dL)

An MRI of the thigh was also obtained:
 A mutation in which of the following genes has most likely lead to this woman's symptoms?

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External References