Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR

Chitotriosidase is a human chitinase produced by macrophages. Its enzymatic activity is markedly elevated in serum of patients suffering from lysosomal storage disorders, as well as other diseases in which macrophages are activated. Therefore, it is a useful tool as a secondary marker in the diagnosis of several disorders including Gaucher disease type 1 and Niemann–Pick disease. The determination of chitotriosidase levels as a diagnosis...