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Elevated plasmz zinc: a heritable anomaly

J C Smith, J A Zeller, E D Brown

    Science (New York, N.Y.)
    |August 6, 1976
    PubMed
    Summary
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    A genetic condition called hyperzincemia, characterized by extremely high plasma zinc levels, appears to be heritable within families. This condition involves excess zinc bound to serum proteins without causing clinical symptoms.

    Area of Science:

    • Biochemistry
    • Human Genetics
    • Clinical Medicine

    Background:

    • Plasma zinc levels are crucial for various physiological processes.
    • Disorders of zinc metabolism can have significant health implications.
    • Familial hyperzincemia is a rare condition characterized by elevated serum zinc.

    Purpose of the Study:

    • To investigate the heritability of hyperzincemia within a family.
    • To understand the clinical presentation and biochemical characteristics of familial hyperzincemia.

    Main Methods:

    • Family-based genetic study.
    • Plasma zinc level measurements.
    • Serum protein analysis.

    Main Results:

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  • Five out of seven family members exhibited hyperzincemia.
  • Two out of three second-generation individuals also showed hyperzincemia, suggesting a dominant inheritance pattern.
  • Excess plasma zinc was primarily bound to serum proteins.
  • No clinical symptoms or abnormalities were observed in affected individuals.

    • Conclusions:

    • Hyperzincemia in this family is likely a heritable genetic trait.
    • The condition is associated with elevated plasma zinc bound to proteins.
    • Familial hyperzincemia may present without overt clinical manifestations.