Methylumbelliferyl-tetra-N-acetyl-chitotetraoside (MU-TACT) hydrolase in human plasma is the same enzyme as chitinase and we have measured it in 14 patients with Gaucher disease and other lysosomal storage diseases. In untreated Gaucher patients the enzyme increase was about 500 times. In some other storage diseases (Krabbe disease, Wolman disease, and GM1-gangliosidosis) the enzyme was also highly increased but never as high as in the Gaucher patients. The enzyme is therefore a marker enzyme of Gaucher patients. Upon treatment of the patients with ceredase®, the raised enzyme levels slowly lowered. Pseudodeficients for MU-TACT hydrolase are present in the normal population and in Gaucher disease.

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