Definition
Gaucher disease is a lysosomal storage disease resulting from glucocerebrosidase enzyme deficiency.
Symptoms
- Liver and spleen enlargement
- bone pain
- Anemia
- Thrombocytopenia
Reasons
GBA gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Enzyme replacement therapy.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of bone crisis, emergency services should be consulted.
This page is for general information purposes only.