aceruloplasminia

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aceruloplasminia

Metabolic disease A condition characterized by progressive extrapyramidal signs, cerebellar ataxia, dementia, and DM associated with ↓ plasma ceruloplasmin due to a mutation in the ceruloplasmin gene; Pts have accumulation of iron in glia and neurons, especially in the basal ganglia and dentate nucleus, liver cells, pancreatic islets Management Chelation with deferoxamine; possibly administration of ceruloplasmin. See Ceruloplasmin. Cf Wilson's disease.

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