Akatalasämie
Acatalasemia
General description
Acatalasemia is characterized by the deficiency of the enzyme catalase which is important for cellular defence in oxidative stress. Affected dogs suffer from ulcers and tissue death in the oral cavity.
Breeds
Beagle
Order details
| Test number | 8552 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | metabolic |
| Causality | causally |
| Gene | CAT |
| Mutation | C-T |
| Literature | OMIA:001138-9615 |
Detailed description
Acatalasemia is characterized by the deficiency of the enzyme catalase which is important for cellular defence in oxidative stress. Affected dogs suffer from ulcers and tissue death in the oral cavity. The disease has only been recognised in a laboratory colony of Beagle dogs. The acatalasemia phenotype caught particular interest as an animal model of a human condition called Takahara’s disease.
