Background: Zinc is an essential trace element required by all living organisms because of its vital role both as a structural component of proteins and as a cofactor in enzymatic catalysis. The importance of zinc in human metabolism characterized by the effects of zinc deficiency, include a diminished immune response, retarded healing and neurological disorders. This study aimed to review the effects of zinc deficiency in onset of inherited disorders.

Materials and Methods: A comprehensive search was done in academic databases (e.g. Pubmed)

Results: While zinc deficiency is commonly caused by dietary factors, several inherited defects of zinc metabolism have been identified. Acrodermatitis enteropathica is the most commonly described inherited condition found in humans. According to some reports, this disorder is associated with mutations in the hZIP4 gene. Another inherited form of zinc deficiency occurs in the lethal milk mouse syndrome, where a mutation in ZnT4 gene, a member of the SLC30 family of transmembrane proteins results in impaired secretion of zinc from the mammary gland into milk. A similar disorder to the lethal milk mouse occurs in humans.

Conclusion: The presence of several minor phenotypic differences between the zinc deficiency in humans and mice suggests that the human condition is caused by defects in genes that are yet to be identified. Taking into account the fact that there are no definitive tests for zinc deficiency detection and that this disorder can left undiagnosed, it is likely that mutations in other genes may underlie additional inherited disorders of zinc deficiency.