aceruloplasminemia
Sign in to saveAlso known as Hemosiderosis, Systemic, Due to Aceruloplasminemia, Hypoceruloplasminemia, Hereditary ceruloplasmin deficiency, Systemic hemosiderosis due to aceruloplasminemia, Familial apoceruloplasmin deficiency, Ceruloplasmin Deficiency
Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time.
Key facts
- Medical condition (new).name
- Aceruloplasminemia
- Medical condition (new).image
- File:Iron deposition in globus pallidus.jpg
- Medical condition (new).caption
- MRI hypointensity (white arrows) in the globus pallidi that indicates the presence of iron deficiencies which would be seen in a diagnosis of Aceruloplasminemia
- Medical condition (new).field
- Medical genetics
- Medical condition (new).synonyms
- Ceruloplasmin deficiency
via Wikipedia infobox
Research
287 papers- Aceruloplasminemia.1993
- [Aceruloplasminemia, a rare condition not to be overlooked].La Revue de medecine interne · 2020
- Aceruloplasminemia.Current drug targets · 2012
- Aceruloplasminemia.Pediatric research · 1998
- Aceruloplasminemia.Journal of the neurological sciences · 2003
via PubMed
Wikidata facts
- Subclass of
- disease
Show 5 more facts
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_48818
- ICD-9-CM
- 277.6
- on focus list of Wikimedia project
- WikiProject Medicine
- NCI Thesaurus ID
- C189281
via Wikidata · CC0
~5 min read
Encyclopedic overview
8 sectionsContents
- Signs and symptoms
- Cause
- Diagnosis
- Prevention
- Treatment
- See also
- References
- External links
Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time.
Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected.
Excerpted from Wikipedia’s “aceruloplasminemia” article, available under the CC BY-SA 4.0 licence.