Aceruloplasminemia

Deficiency of ferroxidase

Overview

Type of disease: Rare conditions

Aceruloplasminemia is a disorder of iron metabolism. 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. As the condition progresses, movement problems are common, such as tremors, choreaataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's.  Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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