Acrodermatitis Enteropathica (AE)
Code: K414
Short description
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.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | SLC39A4 |
| Chromosome | F2 |
| Mutation | c.1057G>C |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | AE |
Clinical features
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.
References
Pubmed ID: 34573291
Year published: 2021
Omia ID: 593
Omia variant ID:
Turnaround information
- 15 working days