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Acatalasemia is a genetic deficiency of catalase activity in erythrocytes.
10 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
|Mode of Inheritance|
Acatalasemia is a genetic deficiency of catalase activity in erythrocytes. The deficiency is most likely caused by a single point mutation in the catalase gene (CAT). The mutated variant is more susceptible to proteolytic degradation than normal catalase.
A clinical feature is the development of gangrene of the oral cavity, which could lead to the removal of teeth at the age of eighteen months, and therefore be a manifestation of acatalasemia.
Pubmed ID: 11137458
Omia ID: 1138