Definition
Tay-Sachs disease is a lysosomal storage disease resulting from hexosaminidase A enzyme deficiency.
Symptoms
- Neurological decline
- vision loss
- Muscle weakness
- Cherry red macula
Reasons
HEXA 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 seizure, emergency services should be consulted.
This page is for general information purposes only.