What is the cause of hepatolenticular degeneration?

Hepatolenticular degeneration

is an autosomal recessive genetic disease. It is considered to be a homozygous or complex heterozygous mutation of the ATP7B gene, resulting in partial or complete loss of enzyme function, resulting in a decrease in the binding rate of copper to ceruloplasmin, and copper excretion disorders through bile, resulting in abnormal deposition of copper in various tissues in the body.

Patients with hepatolenticular degeneration need lifelong intervention to inhibit copper absorption, promote copper excretion, control disease progression, and prevent complications such as esophageal and gastric vein rupture and bleeding, cirrhosis, etc.