Definition
Krabbe disease is a lysosomal storage disease characterized by progressive neurological disorder and peripheral neuropathy, resulting from galactocerebrosidase enzyme deficiency.
Symptoms
- Irritability
- Hypotonia
- Neurological decline
- Peripheral neuropathy
Reasons
GALC gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Bone marrow transplant.
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.