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. Genetic testing is available on a research basis.

Last updated on 05-01-20

Name: NBIA Disorders Association 2082 Monaco Ct.
El Cajon, CA, 92019-4235 , United States
Phone: +1-619-588-2315 Fax : +1-619-588-4093 Email: Url:

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