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Hypocatalasia (known variously as Acatalasia, Catalasia Deficiency, Hypocatalasemia, Acatalasemia, Takahara’s Disease or CAT) is a disorder in which the body does not produce enough of the enzyme catalase, which can result in ulcers of the mouth.

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Caractéristiques

Breeds

, , , , ,

Gene

Chromosome

18

Mutation

c.979G>A

Mode of Inheritance

Autosomal Incomplete Dominant

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Informations générales

Hypocatalasia (known variously as Acatalasia, Catalasia Deficiency, Hypocatalasemia, Acatalasemia, Takahara’s Disease or CAT) is a disorder in which the body does not produce enough of the enzyme catalase, which can result in ulcers of the mouth. A semi-dominant mutation causing the disease has been observed in a range of breeds, including the Beagle, American Foxhound and Miniature Poodle.

Caractéristiques cliniques

Affected dogs are at increased risk of oral ulcers and resulting complications, including gangrene of the mouth and tooth loss.

Additional Information

Références

Pubmed ID: 11137458

Year published: 2000

Omia ID: 1138

Omia variant ID: 49

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