Gaucher's disease type 1 (juvenile)

Introduction

Non neuronopathic, adult, chronic

Laboratory

• very high plasma levels of CHIT1 (chitotriosidase) activity
  • chitotriosidase in serum/plasma
  • chitotriosidase in dried blood spot

Management

• imiglucerase (Cerezyme) or velaglucerase alfa (Vpriv)
• taliglucerase alfa
• successful therapy restores normal CHIT1 activity

More general terms

• Gaucher's disease

Additional terms

• imiglucerase (Cerezyme)

Database

• OMIM: https://mirror.omim.org/entry/230800