It is possible that the main title of the report Aceruloplasminemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- familial apoceruloplasmin deficiency
- hereditary ceruloplasmin deficiency
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene. This mutation is inherited as an autosomal recessive trait.
Aceruloplasminemia is classified as a Neurodegenerative disorder with Brain Iron Accumulation (NBIA). NBIA are a group of rare inherited disorders characterized by iron accumulation in the brain. Aceruloplasminemia is also classified as an iron overload disorder.
Iron Overload Diseases Association, Inc.
525 Mayflower Rd.
West Palm Bch, Fl 33405
NBIA Disorders Association
2082 Monaco Court
El Cajon, CA 92019-4235
Iron Disorders Institute
PO Box 675
Taylors, SC 29687