Gaucher Disease (Beta-Glucosidase Deficiency, Juvenile Gaucher Disease, Infantile Gaucher Disaese)

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You are here : 3-RX.com > Medical Encyclopedia > Diseases and Conditions > Gaucher Disease
Category : Health Centers > Genetics and Birth Defects

Gaucher Disease

Alternate Names : Beta-Glucosidase Deficiency, Juvenile Gaucher Disease, Infantile Gaucher Disaese

Overview, Causes, & Risk Factors | Symptoms & Signs | Diagnosis & Tests | Prevention & Expectations | Treatment & Monitoring

Gaucher disease is an inherited disorder in the metabolism of fats.

What is going on in the body?

In a person with Gaucher disease, a particular enzyme is missing. This enzyme is important in breaking down lipids, or fats, in the body. Because it is missing, a substance builds up in the body and causes damage to various organs. The most common form of the disease tends to be fairly mild. The spleen, the bones, and the blood cells are affected.

What are the causes and risks of the disease?

Gaucher disease is a genetic disorder. If both parents carry the gene for the disorder, their children are at risk.

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		Gaucher Disease: Symptoms & Signs

Author: Adam Brochert, MD
Reviewer: Ronald Jorgenson, DDS, PhD, FACMG
Date Reviewed: 04/23/01

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