Other names: Hypocatalasia, Acatalasemia, CAT
Genes Affected: CAT
Inheritance: Autosomal recessive
Mutation: CanFam3.1 18 g.33397548C>T c.979G>A p.(A327T)
OMIA link: 001138-9615

Appropriate breeds for testing: American Foxhound, Beagle

Symptoms:
Catalase deficiency or acatalasemia, is an inherited metabolic disorder characterized by loss of catalase activity in blood erythrocytes. The effects of the disease are observed in the mucous membranes, liver, muscles and skin. Catalase deficiency leads to ulcer formation and soft tissue necrosis (also known as gangrene).
Although the CAT gene mutation associated with catalase deficiency has been identified in beagles, the frequency in the beagle population is unknown.

References:
Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H.:
Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
Nakamura, K., Watanabe, M., Sasaki, Y., Ikeda, T.:
Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol 32:89-98, 2000. Pubmed reference: 10661897.
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T.:
cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed reference: 11137458.
Nakamura, K., Watanabe, M., Ikeda, T., Sasaki, Y., Matsunuma, N.:
Tissue and organ expression of catalase in acatalasemic beagle dogs. Exp Anim 48:229-34, 1999. Pubmed reference: 10591001.