Gaucher Disease
Alternate Names : Beta-Glucosidase Deficiency, Juvenile Gaucher Disease, Infantile Gaucher Disaese
What are the signs and symptoms of the disease?
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
bone pain or bone fractures
brain involvement, which may cause seizures, mental retardation, and an unsteady style of walking
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