Definition:
Glucocerebrosidase deficiency (also known as Gaucher's disease) is the most common of the lysosomal storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, resulting to an accumulation of its substrate, the fatty substance glucocerebroside (also known as glucosylceramide).
Diagnosis:
The doctor will administer a physical exam. The patient may show signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss. The following tests may be performed: blood test to look for enzyme activity, bone marrow aspiration, biosy of the spleen, MRI, CT, X-ray of the skeleton, and genetic testing.
Treatment:
Enzyme replacement therapy is available, thought a bone marrow transplant may be needed in severe cases.
Symptoms and Signs:
Some symptoms include painless hepatomegaly and splenomegaly; hypersplenism; cirrhosis of the liver (rare); neurological symptoms; osteoporosis; and yellowish-brown skin pigmentation.
Causes:
The lack of the glucocerebrosidase enzyme results to harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances hinder cells and organs from working properly.
:
glucocerebrosidasedeficiency
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