Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy

Vedder, A.C.; Cox-Brinkman, J.; Hollak, C.E.M.; Linthorst, G.E.; Groener, J.E.M.; Helmond, M.T.J.; Scheij, S.; Aerts, J.M.F.G.

doi:10.1016/j.ymgme.2006.04.013

Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy

Increased plasma chitotriosidase is a well established surrogate marker for the occurrence of lipid-laden macrophages in the glycosphingolipidosis Gaucher disease. The complete lack of surrogate markers for Fabry disease, X-linked globotriaosylceramidosis stemming from deficiency in the lysosomal…