Aceruloplasminemia
Aceruloplasminemia
Aceruloplasminemia (pronounced as a-cer-u-lo-plas-min-e-mia) is a rare, genetically inherited disorder characterized by the accumulation of iron in the body's tissues and organs, particularly in the brain, liver, and pancreas.
Etymology
The term "Aceruloplasminemia" is derived from the Greek words "a-" meaning "without", "ceruloplasmin" referring to the protein that carries copper in the blood, and "-emia" meaning "in the blood".
Symptoms
The symptoms of Aceruloplasminemia typically begin in adulthood and may include neurological problems such as movement difficulties, dementia, and diabetes.
Causes
Aceruloplasminemia is caused by mutations in the CP gene, which provides instructions for making a protein called ceruloplasmin. This protein plays a crucial role in regulating iron levels in the body.
Diagnosis
Diagnosis of Aceruloplasminemia is often made through a combination of clinical examination, MRI scans showing iron accumulation in the brain, and genetic testing confirming a mutation in the CP gene.
Treatment
Treatment for Aceruloplasminemia is primarily aimed at managing symptoms and reducing iron accumulation in the body. This may include the use of iron chelation therapy and antioxidant supplements.
Related Terms
External links
- Medical encyclopedia article on Aceruloplasminemia
- Wikipedia's article - Aceruloplasminemia
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