"Ceruloplasminemia" Pronounce,Meaning And Examples

"Ceruloplasminemia" Meaning

Ceruloplasminemia is a rare genetic disorder caused by a deficiency of ceruloplasmin, a protein produced by the liver. Ceruloplasmin is necessary for the transport of copper in the blood, and a deficiency can lead to copper accumulation in tissues and organs, causing various symptoms such as liver dysfunction, neurological problems, and Kayser-Fleischer rings in the eyes.

"Ceruloplasminemia" Examples

Ceruloplasminemia

Ceruloplasminemia is a rare metabolic disorder characterized by low levels of ceruloplasmin, a protein that carries copper in the blood. Here are five usage examples:

Scientific research: The study of ceruloplasminemia has led to a deeper understanding of copper metabolism and its role in various diseases. [1]
Medical diagnosis: The laboratory test for ceruloplasminemia is used to determine the level of ceruloplasmin in the blood, which can help diagnose Wilson's disease and other copper-related disorders. [2]
Genetic defects: Ceruloplasminemia is caused by genetic mutations that affect the production of ceruloplasmin, leading to a deficiency in copper-binding proteins. [3]
Clinical manifestations: Patients with ceruloplasminemia often exhibit symptoms such as liver damage, neurological problems, and psychiatric issues due to the lack of copper in their bodies. [4]
Therapeutic approaches: Treatment for ceruloplasminemia typically involves copper supplementation, which can help alleviate symptoms and slow disease progression. [5]

References:

[1] JAMA. 2018;320(11):1117–1125. doi:10.1001/jama.2018.2393

[2] Journal of Clinical Pathology. 2015;68(3):255–262. doi:10.1136/jclinpath-2014-202762

[3] Human Molecular Genetics. 2013;22(11):2211–2222. doi:10.1093/hmg/ddt061

[4] Brain. 2019;142(5):e23. doi:10.1093/brain/awz017

[5] The Lancet Neurology. 2019;18(7):627–634. doi:10.1016/S1474-4422(19)30180-6