Aceruloplasminemia

Aceruloplasminemia

Dr. KennedyAceruloplasminemia is a genetic disorder in which there is absence of the protein ceruloplasmin from blood and accumulation of iron in the pancreas, liver and brain, causing diabetes and progressive neurodegeneration with the tremors and gait abnormalities characteristic of Parkinson disease. Ceruloplasmin normally removes iron from cells. The absence of ceruloplasmin leads to the abnormal deposition of iron in cells, including those of the pancreas, liver, retina and the basal ganglia region of the brain. The iron deposition damages these tissues and leads to the clinical features of the disease which usually appear between 30 and 50 years of age. Aggressive treatment with desferoxamine, a chelating agent that takes up iron, may halt the progression of these complications. Aceruloplasminemia is caused by mutations in the gene encoding ceruloplasmin.

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