Acrodermatitis Enteropathica (SLC39A4)
Acrodermatitis enteropathica is an autosomal recessive, pan-ethnic disease caused by pathogenic variants in the SLC39A4 gene. Onset of the condition is typically in early infancy. Symptoms are a result of chronic zinc deficiency and include eczema-like or crusty skin lesions that are susceptible to infections, loss of hair, diarrhea, and failure to grow. The condition can also cause inflammation or infection of the eyes and nail beds, anemia, poor wound healing, and delayed puberty. Acrodermatitis enteropathica is fatal unless treated with lifelong zinc supplementation. No genotype-phenotype correlations have been reported.
For information about carrier frequency and residual risk, please see the residual risk table.