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Acatalasemia is a genetic deficiency of catalase activity in erythrocytes.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
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.
Clinical features
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.
Additional information
References
Pubmed ID: 11137458
Omia ID: 1138
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