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H364

Acatalasemia is a genetic deficiency of catalase activity in erythrocytes.

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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

How does it work?

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

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