Hereditary hypoceruloplasminemia

Clin Genet. 1979 Apr;15(4):311-6. doi: 10.1111/j.1399-0004.1979.tb01740.x.


Serum ceruloplasmin values of less than 21.0 mg/100 ml in males or less than 23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results in hypoceruloplasminemia. This mutant gene could be a Wilson's disease gene, but excessive copper loading was absent. It is suggested that hereditary hypoceruloplasminemia may be a benign entity distinct from Wilson's disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Ceruloplasmin / deficiency*
  • Ceruloplasmin / genetics
  • Child
  • Child, Preschool
  • Copper / metabolism
  • Female
  • Genes
  • Hepatolenticular Degeneration / genetics
  • Heterozygote
  • Humans
  • Hypoproteinemia / genetics
  • Male
  • Metal Metabolism, Inborn Errors / genetics*
  • Mutation
  • Pedigree


  • Copper
  • Ceruloplasmin