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Glucocerebrosidase Deficiency

Glucocerebrosidase Deficiency 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.

Glucocerebrosidase Deficiency 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).

Glucocerebrosidase Deficiency 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.

Glucocerebrosidase Deficiency Symptoms and Signs

Some symptoms include painless hepatomegaly and splenomegaly; hypersplenism; cirrhosis of the liver (rare); neurological symptoms; osteoporosis; and yellowish-brown skin pigmentation.

Glucocerebrosidase Deficiency Treatment

Enzyme replacement therapy is available, thought a bone marrow transplant may be needed in severe cases.

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