Acrodermatitis enteropathica (AE)

LABOKLIN Service ID: 8763

In the breed Turkish Van, a variant of the SLC39A4 gene has been found to cause Acrodermatitis enteropathica. The SLC39A4 gene encodes for an intestinal zinc transporter, a loss of function of this transporter leads to systemic zinc deficiency. Zinc ions play an essential part in many biological processes, especially as enzymatic co-factors.
Affected kittens develop normal until 6 weeks of age. At the age of 6-8 weeks, they show growth retardation and diarrhea. Moreover, they suffer from severe and rapidly progressing dermatological signs like scaling, alopecia, moist dermatitis as well as severe erosions and lesions with ventral and distal distribution. Massive secondary infections can be found due to the skin lesions.
Affected kittens can be treated with oral supplementation of large doses of zinc, because there is another intestinal zinc transport pathway that enables the treatment of the deficiency.

Method	sequencing
Breed list	Türkisch Van
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab