Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in theZinc Transporter ZnT-2 (SLC30A2)Gene in the Mother Highlighting the Importance of Zn2+for Normal Growth and Development

[摘要] Suboptimal dietary zinc (Zn2+) intake is increasingly appreciated as an important public health issue. Zn2+is an essential mineral, and infants are particularly vulnerable to Zn2+deficiency, as they require large amounts of Zn2+for their normal growth and development. Although term infants are born with an important hepatic Zn2+storage, adequate Zn2+nutrition of infants mostly depends on breast milk or formula feeding, which contains an adequate amount of Zn2+to meet the infants’ requirements. An exclusively breast-fed 6 months old infant suffering from Zn2+deficiency caused by an autosomal dominant negative G87R mutation in theSlc30a2gene (encoding for the zinc transporter 2 (ZnT-2)) in the mother is reported. More than 20 zinc transporters characterized up to date, classified into two families (Slc30a/ZnT and Slc39a/Zip), reflect the complexity and importance of maintaining cellular Zn2+homeostasis and dynamics. The role of ZnTs is to reduce intracellular Zn2+by transporting it from the cytoplasm into various intracellular organelles and by moving Zn2+into extracellular space. Zips increase intracellular Zn2+by transporting it in the opposite direction. Thus the coordinated action of both is essential for the maintenance of Zn2+homeostasis in the cytoplasm, and accumulating evidence suggests that this is also true for the secretory pathway of growth hormone.

[学科分类] 内分泌与代谢学