Genetic variation in CHIT 1

Duarte, Ana; Ribeiro, Diogo; Amaral, Olga

http://hdl.handle.net/10400.18/750

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Authors

Duarte, Ana

Ribeiro, Diogo

Amaral, Olga

Abstract(s)

Chitotriosidase (EC.3.2.1.14) is an enzyme secreted by activated macrophages. This chitinase is useful as a biochemical marker in several lysosomal and nonlysosomal diseases due to its increased activity in such conditions (MIM#600031. CHIT1 variants may account for additional biochemical variability and should be considered when using chitotriosidase activity as a secondary evaluation marker in diagnosis and disease prognosis.