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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Aceruloplasminemia


Other Names for this Disease
  • Ceruloplasmin deficiency
  • Familial apoceruloplasmin deficiency
  • Hereditary ceruloplasmin deficiency
  • Hypoceruloplasminemia
  • Systemic hemosiderosis due to aceruloplasminemia
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Tests & Diagnosis


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How might aceruloplasminemia be diagnosed?

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

Diabetes mellitus
Retinal degeneration
Anemia
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

References
  1. Miyajima H. Aceruloplasminemia. GeneReview. 2003; http://www.ncbi.nlm.nih.gov/books/NBK1493. Accessed 8/3/2011.