Definition
Sphingolipidoses are a group of lysosomal storage diseases characterized by disorders of sphingolipid metabolism.
Symptoms
- Neurological decline
- Organomegaly
- Skeletal anomalies
- vision problems
Reasons
Various enzyme defects.
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 status epilepticus, emergency services should be consulted.
This page is for general information purposes only.