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Catalase Deficiency (Beagle Type)
Test Overview:
Hypocatalasia is a rare genetic disorder. Symptoms have been poorly described or are missing from the literature. It is suspected that affected dogs have a higher risk of developing open sores (ulcers) inside the mouth that may lead to gangrene of the mouth. Affected dogs most commonly show no or few signs, and the disorder is usually diagnosed when checking other symptoms.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
CAT on Chromosome 18
Variant Detected:
Base Substitution G>A
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Recommended Screening:
Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth
Research Citation(s):
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.
Associated Breed(s):
Beagle, Mixed Breed,
