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Aceruloplasminemia

Abstract

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NORD is very grateful to Alisdair McNeill, MD, Specialist Registrar in Medical Genetics, Regional Clinical Genetics Unit, Birmingham Womens Hospital, UK, for assistance in the preparation of this report.

Synonyms of Aceruloplasminemia

  • familial apoceruloplasmin deficiency
  • hereditary ceruloplasmin deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Aceruloplasminemia

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