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Genetic variation in CHIT 1
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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.
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Doenças Genéticas CHIT1 Genetic Disease