Acrodermatitis enteropathica is a genetic disease related to alterations in the SLC39A4 gene, which affects the ability of the small intestine to absorb zinc, resulting in zinc deficiency. This condition is clinically manifested by skin lesions such as severe desquamation, as well as diarrhea and growth retardation.
Symptoms
Clinical signs usually appear between the sixth and eighth week of life, varying in severity. Various cutaneous manifestations are observed, ranging from severe and generalized desquamation to the presence of alopecia and wet dermatitis, characterized by inflammation and exudation of the skin. In addition, the appearance of erosions and ulcerations in specific areas is common. These lesions tend to be more pronounced in areas of friction. Along with skin symptoms, affected animals may also show clinical signs such as anorexia, diarrhea, fever and loss of body weight.
Disease Management
Treatment of acrodermatitis enteropathica focuses primarily on maintaining adequate zinc levels through oral zinc supplementation.
Genetic basis
This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the cat, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected cat must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between cats carrying genetic variants that may cause disease, even if they do not show symptoms, is not recommended.
Technical report
Acrodermatitis enteropathica is an autosomal recessive disease that has been described in humans and cattle, and has been associated with plasma zinc deficiency. Zinc ions are essential as cofactors in several enzymatic reactions, participating both in the catalytic mechanism and in the stabilization of the tertiary or quaternary structure of proteins. A missense variant (c.1057G>C) has been identified in the SLC39A4 gene, which encodes a zinc transporter responsible for zinc absorption in the small intestine. This variant is predicted to replace a highly conserved glycine residue with an arginine residue (p.G353R), resulting in functional loss of the transporter. Loss of function of SLC39A4 results in severe zinc deficiency, which can be fatal if untreated.
Most affected breeds
Turkish Van
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