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Hereditary hypoceruloplasminemia
Author(s) -
Edwards C. Q.,
Williams D. M.,
Cartwright G. E.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01740.x
Subject(s) - ceruloplasmin , mutant , gene , genetics , biology , disease , mutation , medicine , endocrinology
Serum ceruloplasmin values of <21.0 mg/100 ml in males or <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.