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K414

Acrodermatitis Enteropathica (AE) is a metabolic disorder that causes zinc deficiency, resulting in a wide array of of symptoms including inflamed skin, diarrhoea and stunted growth.

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Caractéristiques

Breeds

Gene

Chromosome

F2

Mutation

c.1057G>C

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

AE

Informations générales

Acrodermatitis Enteropathica (AE) is a metabolic disorder that causes zinc deficiency, resulting in a wide array of of symptoms including inflamed skin, diarrhoea and stunted growth. A severe variant of the disease, observed in the Turkish Van, is caused by a recessive mutation to the gene SLC39A4.

Caractéristiques cliniques

Affected kittens begin presenting with symptoms of AE at approximately 6 to 8 weeks of age: anorexia, retarded growth compared to healthy littermates, diarrhoea and severe skin disease. This skin condition can include severe scaling, loss of hair (alopecia), and the development of crusts, lesions and ulcers. Affected kittens can rapidly deteriorate in condition and are likely to die within several weeks of the first onset. Euthanasia on humane grounds is likely to be necessary.

Additional Information

Références

Pubmed ID: 34573291

Year published: 2021

Omia ID: 593

Omia variant ID:

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