Definition
Farber disease is a rare lysosomal storage disease characterized by painful nodules, joint contractures, and progressive neurological impairment resulting from aceramidase enzyme deficiency.
Symptoms
- Painful subcutaneous nodules
- Joint contractures
- Hoarseness
- Neurological decline
Reasons
ASAH1 gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Symptomatic treatment.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of respiratory distress, emergency services should be consulted.
This page is for general information purposes only.