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GM1 gangliosidosis, type 3 (adult or chronic GM1-gangliosidosis)
Genetics:
- autosomal recessive
- associated with defects in GLB1
Clinical manifestations:
- mild skeletal abnormalities
- dysarthria
- gait disturbance
- dystonia
- visual impairment
- visceromegaly is absent
Related
chromosomal aberration
GM1 ganglioside; monosialoganglioside
keratan sulfate
General
GM1 gangliosidosis
Properties
ACCUMULATION: GM1 ganglioside
keratan sulfate
DEFICIENCY: beta-galactosidase
Database Correlations
OMIM 230650
References
OMIM :accession 230650