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ID:388 Chitotriosidase
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DescriptionMarker for some lysosomal storage disorders, can be used for monitoring Gaucher patients on treatment
IndicationConfimation of the diagnosis of Gauchers disease, predictive indicator for clinical improvement upon enzyme therapy
Additional InfoGaucher disease is a deficiency in the enzyme glucocerebrosidase, which degrades the natural lipid glucocerebroside. Macrophages become lipid laden and are know as Gaucher cells. The origin of chitotriosidase is thought to be Gaucher cells.
Concurrent Testsna
Dietary Requirementsna

InterpretationDramatically elevated in Gaucher's patients - >100 fold increase

Ref. Range (Male) 42
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes4-120 umol/l/h.
Unitsumol/L/24h


IP Acute TAT2 weeks
IP Routine TAT2 weeks
GP Acute TAT2 weeks
GP Routine TAT2 weeks
Turnround CommentHeather Church / Karen Tylee:Heather.Church@cmft.nhs.uk
Originally edited by : Robert Barski. Last edited on 22/11/2018 10:13:49. Published By on 22/11/2017 10:13:49.