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Gaucher's disease type 3 (juvenile & adult)
Subacute, juvenile, neuronopathic
3 subtypes a, b, c
Pathology:
- progressive calcification of heart valves (3c)
Related
glucocerebroside (glucosylceramide)
glucosylceramidase; lysosomal acid glucosylceramidase; acidic beta glucosidase; beta-glucocerebrosidase (GBA1, GBA, GC, GLUC)
General
Gaucher's disease
Properties
ACCUMULATION: glucocerebroside
DEFICIENCY: glucosylceramidase
Database Correlations
OMIM 231000