title: Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn (2+) for Normal Growth and Development.
abstract: Suboptimal dietary zinc (Zn(2+)) intake is increasingly appreciated as an important public health issue. Zn(2+) is an essential mineral, and infants are particularly vulnerable to Zn(2+) deficiency, as they require large amounts of Zn(2+) for their normal growth and development. Although term infants are born with an important hepatic Zn(2+) storage, adequate Zn(2+) nutrition of infants mostly depends on breast milk or formula feeding, which contains an adequate amount of Zn(2+) to meet the infants' requirements. An exclusively breast-fed 6 months old infant suffering from Zn(2+) deficiency caused by an autosomal dominant negative G87R mutation in the Slc30a2 gene (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 Zn(2+) homeostasis and dynamics. The role of ZnTs is to reduce intracellular Zn(2+) by transporting it from the cytoplasm into various intracellular organelles and by moving Zn(2+) into extracellular space. Zips increase intracellular Zn(2+) by transporting it in the opposite direction. Thus the coordinated action of both is essential for the maintenance of Zn(2+) homeostasis in the cytoplasm, and accumulating evidence suggests that this is also true for the secretory pathway of growth hormone.
authors.affiliation: Division of Paediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University Children's Hospital, Inselspital, 3010 Bern, Switzerland.
authors.forename: Maria Consolata
authors.initials: MC
authors.lastname: Miletta
authors.forename: Andreas
authors.initials: A
authors.lastname: Bieri
authors.forename: Kristin
authors.initials: K
authors.lastname: Kernland
authors.forename: Martin H
authors.initials: MH
authors.lastname: Schöni
authors.forename: Vibor
authors.initials: V
authors.lastname: Petkovic
authors.forename: Christa E
authors.initials: CE
authors.lastname: Flück
authors.forename: Andrée
authors.initials: A
authors.lastname: Eblé
authors.forename: Primus E
authors.initials: PE
authors.lastname: Mullis