Blueprint Genetics

Acrodermatitis enteropathica (AE) is caused by SLC39A4 mutations leading to severe zinc deficiency and manifest clinically by acral dermatitis, alopecia, diarrhea and growth failure. AE usually presents in the first months of life in infants that are not breast-fed and at the time of weaning in breast-fed infants, as cow’s milk contains more zinc-binding phytates that impede zinc absorption. In the majority of cases, zinc supplementation therapy results in the disappearance of symptoms but this treatment is life-long. Overall, mutations of SLC39A4 are detected in 48% of the index cases but only 40% of the patients are homozygotes or compound heterozygotes, whereas 8% are heterozygotes only. Incidence is estimated to be 1:500,000.