Definition
Gangliosidosis is a lysosomal storage disease characterized by disorders of ganglioside metabolism and progressive neurological disorders.
Symptoms
- Neurological decline
- Macrocephaly
- Cherry red macula
- Hypotonia
Reasons
HEXA, GLB1 gene mutations.
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 status epilepticus, emergency services should be consulted.
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