Catalase Deficiency (CAT)
CAT, Canine Catalase Deficiency, Acatalasemia, Hypocatalasemia, Hypocatalasia, Takahara's Disease
Catalase Deficiency (CAT) is a genetic disorder that leads to reduced catalase enzyme activity which normally protects tissues from reactive oxygen species. This enzyme deficiency can lead to ulcer formation and eventual necrosis or gangrene of soft tissues. A common symptom of the disorder is deep ulcer formation inside the mouth that can affect puppies or dogs of any age. In more serious cases, affected dogs can be at an increased risk for life threatening ulceration or gangrene within the oral cavity. Due to the variable penetrance of the disease, some dogs that have two copies of the mutation may not show clinical signs of the disease.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Catalase Deficiency nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Catalase Deficiency and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Catalase Deficiency which typically results in oral cavity ulcer formation.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
ADAMTSL2
Chromosome
Ch. 18
Mutation
c.979G>A; p.Ala327Thr
Publication:
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. Int J Biochem Cell Biol. 2000 Nov-Dec;32(11-12):1183-93. [PubMed: 11137458].
