title: Elevated plasma chitotriosidase activity in various lysosomal storage disorders.
abstract: Recently a striking elevation of the activity of chitotriosidase, an endo beta-glucosaminidase distinct from lysozyme, was found in plasma from patients with Gaucher type I disease (McKusick 230800). Plasma chitotriosidase originates from activated macrophages and this elevation is secondary to the basic defect in Gaucher disease. To investigate the specificity of this phenomenon, we have investigated 24 different lysosomal storage diseases. In 11 different diseases increased chitotriosidase activity in plasma was found (in 28% of the patients). None of these diseases showed elevations as high as in Gaucher disease. Chitotriosidase was not significantly elevated in plasma from 20 different non-lysosomal enzymopathies or in plasma from patients with infectious diseases associated with hepatomegaly. The results show that marked elevation of chitotriosidase activity in plasma appears to be specific for Gaucher disease. The data further suggest that elevated levels of chitotriosidase activity in plasma from patients with unexplained diseases may be indicative for a lysosomal disorder.
authors: Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors: Y
authors: Y
authors: Guo
authors: W
authors: W
authors: He
authors: A M
authors: AM
authors: Boer
authors: R A
authors: RA
authors: Wevers
authors: A M
authors: AM
authors: de Bruijn
authors: J E
authors: JE
authors: Groener
authors: C E
authors: CE
authors: Hollak
authors: J M
authors: JM
authors: Aerts
authors: H
authors: H
authors: Galjaard
authors: O P
authors: OP
authors: van Diggelen
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D004795:Enzyme Stability; D005260:Female; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D012016:Reference Values; D012737:Sex Factors
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase