Abstract: The hepatolenticular degeneration (HLD), also known as Wilson's disease, is an entity of disordered copper metabolism caused by ATP7B gene mutation, which leads to intracellular copper transport dysfunction and excessive accumulation of copper in various organs. The early diagnosis and treatment can improve the prognosis of patients with HLD and reduce disability and early death. The current treatments include a diet with low copper, medical intervention and liver transplantation. However, the low copper diet could not significantly reduce the amount of copper absorption in intestinal epithelial cells, and excessive restriction of it will cause nutrient absorption disorders in normal tissue cells. The present treatment regimens often face problems such as poor adherence and worsening neurological symptoms. The application of liver transplantation is often limited by the shortage of donor organs and the need for lifelong immunosuppression. The new therapies, such as new medicine preparations, cell and gene therapy have brought new hopes for patients with HLD.

Key words: Hepatolenticular degeneration, Low copper diet, Medication, Liver transplantation, Gene therapy