Test Detail
Acatalasemia
Hematológico · Dog
Hereditary deficiency of the enzyme catalase, which catalyses the breakdown of hydrogen peroxide into water and oxygen. Catalase is very abundant in erythrocytes and in many tissues, and its deficiency manifests as a characteristic biochemical alteration. Most affected animals are asymptomatic; homozygotes may present oral ulcers and periodontal problems due to reduced defence against bacterial peroxide. It is a classic biochemical trait described in Beagle lines.
Incidence
Trait initially described in laboratory Beagle lines. Screening with genetic panels has also detected the allele in the companion Beagle (including a homozygote with oral gangrene) and in the American Foxhound, English Foxhound, Harrier, Miniature Poodle and Treeing Walker Coonhound (Donner et al., 2016, PMID 27525650; 2018, PMID 29708978; OMIA:001138-9615). There are no consolidated population frequencies for most breeds.
Breeder management
- Screen breeding animals from lines with a history before mating\n- Do not mate two carriers if testing is available\n- Monitor the oral health of homozygous animals and consider periodic dental prophylaxis\n- Inform the new owner of the animal's biochemical status
Specialist notes
Acatalasemia is usually an incidental analytical finding when measuring erythrocyte enzyme activity. It should not be confused with G6PDH deficiency or with haemolytic anaemias due to defects of the glutathione axis. The diagnosis is confirmed by measuring catalase activity in red blood cells. Its clinical relevance is minor, but it should be monitored in carrier lines to avoid symptomatic homozygosity.
References
1. Nakamura K, et al. cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme. Int J Biochem Cell Biol 2000;32(11-12):1183-93. PMID: 11137458
2. Donner J, et al. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One 2016;11(8):e0161005. PMID: 27525650
3. Donner J, et al. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet 2018;14(4):e1007361. PMID: 29708978
4. OMIA:001138-9615 (CAT). https://omia.org/OMIA001138/9615/
2. Donner J, et al. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One 2016;11(8):e0161005. PMID: 27525650
3. Donner J, et al. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet 2018;14(4):e1007361. PMID: 29708978
4. OMIA:001138-9615 (CAT). https://omia.org/OMIA001138/9615/