Aceruloplasminemia, an inherited disorder of iron metabolism

@article{Miyajima2003AceruloplasminemiaAI,
  title={Aceruloplasminemia, an inherited disorder of iron metabolism},
  author={Hiroaki Miyajima and Yoshitomo Takahashi and Satoshi Kono},
  journal={Biometals},
  year={2003},
  volume={16},
  pages={205-213}
}
Ceruloplasmin, a multi-copper ferroxidase that affects the distribution of tissue iron, has antioxidant effects through the oxidation of ferrous iron to ferric iron. Aceruloplasminemia is an inherited disorder of iron metabolism due to the complete lack of ceruloplasmin ferroxidase activity caused by mutations in the ceruloplasmin gene. It is characterized by iron accumulation in the brain as well as visceral organs. Clinically, the disease consists of the triad of retinal degeneration… CONTINUE READING

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