[Present status of diagnosis and treatment of hepatolenticular degeneration]

Hepatolenticular degeneration (HLD) is an autosomal recessive inherited disorder of copper metabolism. The mutations in the ATP7B gene on chromosome 13 leads to the functional defect of ATP7B, which produces pathological deposits of copper in liver, brain, cornea and kidney, with diverse clinical manifestations in various forms of liver disease, nervous system disease and corneal disease (Kayser-Fleischer rings). Early diagnosis and proper treatment can improve the prognosis of hepatolenticular degeneration. Conversely, it may progress to end-stage liver disease or severe motor dysfunction, which seriously affects patient quality of life.