Basic Summary for Gaucher Disease


Main name of condition: Gaucher Disease
Other names or spellings: Gaucherís disease

What is Gaucher Disease?
  Brief description of Gaucher Disease: Genetic metabolic syndrome with buildup of fatty deposits
  Parent types of Gaucher Disease: Liver conditions, Chronic liver disease, Brain conditions, Genetic Disease, Bone Marrow Conditions
  Organs Affected by Gaucher Disease: metabolism, spleen, liver, lungs, bone marrow, brain
  Types of Gaucher Disease: Type 1 adult Gaucher disease, Type 2 infantile Gaucher disease, Type 3 juvenile Gaucher disease
How serious is Gaucher Disease?
  Prognosis of Gaucher Disease: There is no permanent cure for Gaucherís. Enzyme replacement therapy is very beneficial for type 1 patients and most of the type 3 patients with this condition. 1
What causes Gaucher Disease?
  Cause of Gaucher Disease: Genetic defect causing a deficiency of an enzyme called glucocerebrosidase
  Class of Condition for Gaucher Disease: genetic
What are the symptoms of Gaucher Disease?
  Symptoms of Gaucher Disease: see symptoms of Gaucher Disease
Can anyone else get Gaucher Disease?
  Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
  Inheritance of genetic conditions: see details in inheritance of genetic diseases.
How is it treated?
  Treatments for Gaucher Disease: see treatments for Gaucher Disease

1. excerpt from NINDS Gaucher's Disease Information Page: NINDS

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