Abstract
We report the case of an 11-y-old boy with a plasma Zn concentration greater than 200 μmol/L, but with symptoms consistent with Zn deficiency. He has had hepatosplenomegaly, rashes, stunted growth (<3rd centile), anemia, and impaired immune function since infancy. He also has vasculitis and osteoporosis. A plasma Zn-binding protein has been separated and characterized by a combination of size exclusion and ion exchange chromatography and electrophoretic studies and by immunologic methods. Antibodies to the partially purified protein have been raised in rabbits. Size exclusion chromatography shows that Zn is bound to a protein with a mass 110 000-300 000 kD. Electrophoretic and mass spectrometry studies suggest that the protein may be composed of several subunits. One component of the isolated protein reacts with antiserum to α2-macroglobulin; immunoprecipitation studies confirm that the protein is not α2-macroglobulin or a histidine-rich glycoprotein. Kinetic studies of zinc metabolism in the patient and his mother with stable Zn isotopes show the presence of increased exchangeable Zn, with a rapid flux from plasma to a stable pool. Liver and muscle Zn and Cu concentrations are raised, but with no abnormal liver histology. Immunoreactive metallothionein in the liver is increased. We suggest that this boy may suffer from a previously unrecognized inborn error of Zn metabolism causing symptomatic zinc deficiency.
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Abbreviations
- AAS:
-
atomic absorption spectrometry
- CZE:
-
capillary zone electrophoresis
- MECC:
-
micellar electrokinetic capillary chromatography
- HRG:
-
histidine/proline-rich glycoprotein
- ALP:
-
alkaline phosphatase
- MT:
-
metallothionein
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Acknowledgements
The authors thank Dr. Alan Lansdown, Comparative Biology Unit, Charing Cross and Westminster Medical School, for raising the antibodies to the Zn-binding protein, Dr. Bharat Jasani, Department of Pathology, University of Wales College of Medicine, Cardiff, UK, for the immunochemical MT staining, and Professor W. T. Morgan, Division of Molecular Biology and Biochemistry, School of Biological Sciences, University of Missouri-Kansas City, Kansas City, MO, for the antibody to HRG.
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Sampson, B., Kovar, I., Rauscher, A. et al. A Case of Hyperzincemia with Functional Zinc Depletion: A New Disorder?. Pediatr Res 42, 219–225 (1997). https://doi.org/10.1203/00006450-199708000-00015
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DOI: https://doi.org/10.1203/00006450-199708000-00015
