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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Ceruloplasmin deficiency
  • Familial apoceruloplasmin deficiency
  • Hereditary ceruloplasmin deficiency
  • Hypoceruloplasminemia
  • Systemic hemosiderosis due to aceruloplasminemia
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What is aceruloplasminemia?

How might aceruloplasminemia be diagnosed?

What is aceruloplasminemia?

Aceruloplasminemia is a disorder of iron metabolism.[1] This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's.[2] As the condition progresses, movement problems are common, such as tremors, choreaataxia, eyelid twitching, and grimacing.[2] Some experience psychiatric problems and dementia in their 40's and 50's.[2] Eye examination may reveal changes in the retina, but these changes typically do not affect vision.[2] Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.[2]
Last updated: 8/3/2011

How might aceruloplasminemia be diagnosed?

When a person has more than one of the following symptoms, aceruloplasminemia should be suspected:

Diabetes mellitus
Retinal degeneration
Movement disorder

Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People with aceruloplasminemia tend to have low serum copper (<10 ug/dL), low serum iron (< 45 ug/dL), high serum ferritin (850-4000 ng/mL) and absent serum ceruloplasmin concentration. Patients also tend to demonstrate altered serum ceruloplasmin ferroxidase activity.[1] Genetic testing is available on a research basis.[1]

Last updated: 8/3/2011

  1. Miyajima H. Aceruloplasminemia. GeneReview. 2003; Accessed 8/3/2011.
  2. Aceruloplasminemia. Genetics Home Reference. 2008; Accessed 8/3/2011.