Abnormal intestinal absorption and transport of zinc leading to severe zinc deficiency
Symptoms Severe signs of skin disease, alopecia, diarrhea, stunted growth.
Gene involved SLC39A4
Mutation tested c.1057G>C
Transmission mode : Autosomal recessive Age of onset : From 6 weeks old
Publication : Kiener et al. (2021). A missense variant in SLC39A4 in a litter of Turkish Van Cats with Acrodermatitis Enteropathica.