Gaucher's Disease
Definition
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.
Symptoms
Symptoms vary depending on the type of disease, but may include:
* Bone pain and fractures
* Cognitive impairment
* Easy bruising
* Enlarged spleen (splenomegaly)
* Enlarged liver (hepatomegaly)
* Fatigue
* Heart valve problems
* Lung disease
* Seizures
* Severe swelling (edema) at birth
* Skin changes
0 yorum:
Post a Comment