The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update.
A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.
Michelakakis
H
H
Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece. inchildh@otenet.gr
Dimitriou
E
E
Labadaridis
I
I
D016738:Alagille Syndrome / Q000097:blood*; D005645:Fucosidosis / Q000097:blood*; D005690:Galactose / Q000097:blood*; D006011:Glycogen Storage Disease Type IV / Q000097:blood*; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood*; D008264:Macrophages / Q000378:metabolism
D006596:Hexosaminidases; C086400:chitotriosidase; D005690:Galactose