Gaucher's Disease
Rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, and bone deterioration resulting in pathological fractures. Gaucher's disease results when a defect in the body's synthesis of the enzyme glucocerebrosidase allows the lipid glucocerebroside to accumulate in the body's storage

0 Comments:
Post a Comment
<< Home