aceruloplasminia

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.

McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.