Elevated plasma chitotriosidase activity in various lysosomal storage disorders

Area of Science:

• Biochemistry
• Genetics
• Medical Diagnostics

Background:

• Chitotriosidase, an endo beta-glucosaminidase, is elevated in Gaucher type I disease patients.
• This enzyme elevation originates from activated macrophages and is linked to the disease's underlying defect.

Purpose of the Study:

• To determine the specificity of elevated plasma chitotriosidase activity.
• To investigate its diagnostic potential across various lysosomal storage diseases.

Main Methods:

• Assessed plasma chitotriosidase activity in patients with Gaucher disease.
• Screened 24 different lysosomal storage diseases for elevated chitotriosidase.
• Compared enzyme levels in Gaucher disease, other lysosomal disorders, non-lysosomal enzymopathies, and infectious diseases.

Main Results:

• Marked chitotriosidase elevation was specific to Gaucher disease.
• Increased activity was observed in 11 other lysosomal storage diseases (28% of patients), but at lower levels.
• No significant elevation was found in non-lysosomal enzymopathies or infectious diseases with hepatomegaly.

Conclusions:

• Marked elevation of plasma chitotriosidase activity is highly specific for Gaucher disease.
• Elevated chitotriosidase may indicate a lysosomal disorder in patients with unexplained diseases.
• Chitotriosidase serves as a valuable biomarker for Gaucher disease diagnosis and potentially for screening lysosomal disorders.