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Gaucher's disease type 1 (juvenile)
Non neuronopathic, adult, chronic
Laboratory:
- very high plasma levels of CHIT1 (chitotriosidase) activity [1]
- chitotriosidase in serum/plasma
- chitotriosidase in dried blood spot
Management:
- imiglucerase (Cerezyme) or velaglucerase alfa (Vpriv)
- taliglucerase alfa
- successful therapy restores normal CHIT1 activity
Related
glucocerebroside (glucosylceramide)
glucosylceramidase; lysosomal acid glucosylceramidase; acidic beta glucosidase; beta-glucocerebrosidase (GBA1, GBA, GC, GLUC)
imiglucerase (Cerezyme)
General
Gaucher's disease
Properties
ACCUMULATION: glucocerebroside
DEFICIENCY: glucosylceramidase
Database Correlations
OMIM 230800
References
- UniProt :accession Q13231