Wilson's disease

Learn about Wilson's Disease, a rare genetic disorder that affects the body's ability to metabolize copper. Discover the causes, symptoms, and available treatments for this condition.
Human Body, Serum, Wilson's Disease, Wilson, White Matter, Pathology, Sign, Medical, The Double

A 36-year-old woman presented with severe dysarthria, axial and appendicular tremor, and ataxia. Symptoms began with the tremor 2 years prior to presentation. Neurologic examination revealed the presence of Kayser–Fleischer rings (figure, A), severe dysarthria and dysphonia, akathisia, truncal and appendicular tremor, left hemiparesis, and dystonia. Serum ceruloplasmin was markedly decreased at 10 mg/dL (normal 18 to 55 mg/dL). …

Irmgard Sanderse Noordman
Wilson's disease is a genetic disorder. It  was first described in 1854 by British Neurologist Friedrich Theodor Von Frerichs and is named... British, Wilson's Disease, Genetic Disorder, Genetic Disorders, Wilson, Neurologist, Medical Science, Disorders, Disease

Wilson's disease is a genetic disorder. It was first described in 1854 by British Neurologist Friedrich Theodor Von Frerichs and is named after Samuel Alexander Kinnier Wilson. "When the body cannot metabolize copper, dangerously high level of the metal accumulate in liver, kidney, brain, bones and eyes. The appearance of brown or green rings in the eyes (Kayser-Fleischer rings) are the most obvious symptoms of the disease." Figure 1: Wilson's Disease-Brown or Green rings in the Eyes…

Sahilhusen Jethara
Biochemical diagnosis of Wilson’s disease: an update Biochemical, Liver Disease, Bloodstream, Wilson's Disease, Liver Failure, Disease, Liver, Autoimmune, Diagnosis

Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric manifestations. This paper reviews the diagnostic performance and limitations of the biochemical tests commonly used to detect this underdiagnosed disease. It also provides some recommendations and suggests a set of standardized laboratory…

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