It is also known as hepatolenticular degeneration

Autosomal recessive disorder.

It is caused by defective biliary copper excretion, which results in the accumulation of copper in the liver, brain, kidney, and cornea.

Clinical features

Fatigue

Abdominal pain

Ascites

Jaundice

Golden-brown eye discolouration (Kayser-Fleischer rings)

Problems with speech, swallowing, or physical coordination

Uncontrolled movements or muscle stiffness

Complications

Liver Cirrhosis

Renal calculi

Neurological deficit such a slurred speech/ problem with swallowing

Personality change/ depression

Management

Treatment is with penicillamine.

Liver transplantation