Wilson disease: Is an inherited disorder

Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Explore symptoms, inheritance, genetics of this condition. Wilson’s disease is a rare genetic disorder that causes copper poisoning in the body. Find out how doctors diagnose and treat this condition. The Causes of Wilson's Disease Wilson's Disease is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene. This mutation impairs the body's ability to remove excess copper, leading to its accumulation in vital organs such as the liver, brain, and eyes. Under normal circumstances, the liver processes dietary copper and excretes the excess through bile. In individuals with Wilson's Disease , this pathway is disrupted, resulting in toxic copper buildup. The genetic nature ... INTRODUCTION Wilson disease (WD) is a rare autosomal recessive disorder of copper transport and accumulation that primarily affects individuals aged 3–55 years old, 1 affects the liver and central nervous system, and has an approximate prevalence of 1 in 30,000. 2 Worldwide, the prevalence is 30 per million population. 3 The disease is rare, and a variety of invasive and noninvasive testing modalities for diagnosis exist. Treatment options still include the original medications from the ...