Wilson's disease

Wilson's disease is a rare, inherited autosomal recessive disorder of copper metabolism caused by pathogenic variants in the ATP7B gene The accumulation primarily affects the liver, central nervous system, and corneas, typically manifesting in children, adolescents, and young adults Clinical hallmarks include chronic hepatitis, cirrhosis, or acute liver failure, often accompanied by movement disorders, tremors, dysarthria, psychiatric disturbances, and characteristic copper deposits in Descemet'...

Wilson's disease is a rare, inherited autosomal recessive disorder of copper metabolism caused by pathogenic variants in the ATP7B gene Clinical hallmarks include chronic hepatitis, cirrhosis, or acute liver failure, often accompanied by movement disorders, tremors, dysarthria, psychiatric disturbances, and characteristic copper deposits in Descemet's membrane of the eye known as Kayser-Fleischer rings

This genetic defect impairs hepatic copper transport into bile and incorporation into ceruloplasmin, resulting in progressive, pathological copper overload

This genetic defect impairs hepatic copper transport into bile and incorporation into ceruloplasmin, resulting in progressive, pathological copper overload Clinical hallmarks include chronic hepatitis, cirrhosis, or acute liver failure, often accompanied by movement disorders, tremors, dysarthria, psychiatric disturbances, and characteristic copper deposits in Descemet's membrane of the eye known as Kayser-Fleischer rings

The accumulation primarily affects the liver, central nervous system, and corneas, typically manifesting in children, adolescents, and young adults