title: Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia.
abstract: OBJECTIVE
  Aceruloplasminemia is a novel hereditary iron overload disease caused by a mutation in the ceruloplasmin gene and characterized by a complete deficiency of serum ceruloplasmin and iron accumulation in the liver and brain.
  
  
  METHODS
  We herein studied a novel clinical type of aceruloplasminemia in which a low amount of ceruloplasmin was detected in the serum of a patient. The patient presented with an asymptomatic hepatic iron overload, retinal degeneration, and diabetes mellitus. Magnetic resonance imaging of the liver and basal ganglia showed T2-hypointensity signals associated with parenchymal iron accumulation because of an absence of the ferroxidase activity in ceruloplasmin.
  
  
  RESULTS
  A gene analysis showed a novel G969S mutation in the ceruloplasmin gene. A biochemical analysis of the patients' serum and a biogenesis study of G969S mutant ceruloplasmin using mammalian cell culture system resulted in the synthesis and secretion of only apoceruloplasmin without any ferroxidase activity.
  
  
  CONCLUSIONS
  This novel clinical type of aceruloplasminemia should therefore be considered in the differential diagnosis of unexplained hemochromatosis, which is associated with a decrease in the serum ceruloplasmin level.
authors.affiliation: The First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kono
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Suzuki
authors.forename: Kazuo
authors.initials: K
authors.lastname: Takahashi
authors.forename: Yoshitomo
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Kentaro
authors.initials: K
authors.lastname: Shirakawa
authors.forename: Yohko
authors.initials: Y
authors.lastname: Murakawa
authors.forename: Shuhei
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyajima
mesh_terms: D000368:Aged; D002478:Cells, Cultured; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis / Q000378:metabolism*; D008099:Liver / Q000378:metabolism* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; D002570:Ceruloplasmin