Gaucher Disease: Symptoms & Signs (Beta-Glucosidase Deficiency, Juvenile Gaucher Disease, Infantile Gaucher Disaese)

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

Symptoms of Gaucher disease depend on the type. The infantile type is more severe than the juvenile or adult types. Symptoms include:

an abnormally large spleen, the organ in the upper right part of the abdomen that helps filter blood

low blood counts, which may cause easy bruising, bleeding, fatigue, or infections

an abnormally large liver

brain involvement, which may cause seizures, mental retardation, and an unsteady style of walking

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Gaucher Disease: Overview, Causes, & Risk Factors		Gaucher Disease: Diagnosis & Tests

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

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