Abstract: Objective: To detect the genetic mutations in a patient with zinc deficiency and retrospective analyze of the relevant literatures. Methods: DNA was extracted from the peripheral blood samples and the mutation of SLC39A4 gene was detected by PCR amplification and direct sequencing. Results: Pathogenic mutations in gene SLC39A4 were not detected in this patient. The total 140 cases (139 cases from relevant literatures and 1 case from our hospital) included 84 patients with acrodermatitis enteropathica (AE) and 56 patients with acquired zinc deficiency. The SLC39A4 mutation detection was performed in 39 patients with AE and 19 patients with acquired zinc deficiency. The mutation detection rate in patients with AE and acquired zinc deficiency were 100% and 0%,respectively. Thirty four (87.2%) patients with AE and no patient with acquired zinc deficiency needed long-term zinc supplementation treatment. Conclusion: The patients with AE always have SLC39A4 mutation and those with acquired zinc deficiency have no SLC39A4 gene mutation. The detection of SLC39A4 plays an important role in the differential diagnosis between AE and acquired zinc deficiency. 

Key words: acquired zinc deficiency, acrodermatitis enteropathica, SLC39A4