<unk>  is a rare autosomal recessive inherited disease that occurs in both children and adults due to copper accumulation in different organs, mainly in the liver and the brain.<unk>  is caused by genetic mutations in the ATP7B gene which is responsible for the transportation of the dietary copper to the liver. Copper is normaly absorbed in the stomach and transported to the liver in order to function properly as a cofactor for some enzymes as the cytochrome c oxidase enzyme. Copper is also incorporated in the formation of ceruloplasmin in the Trans Golgi network. Transportation of the copper to the Trans Golgi network occurs via ATOX1 protein and others are bound to metallothionein. Pathogenesis of<unk>  include any impairment that may occur during copper transportation and incorporation into different essential metabolic mechanisms. The mechanisms responsible for the pathogenesis of<unk>  include high serum copper level, accumulation of the copper in the liver, and deposition of the copper in different organs resulting in ultimate injury and organ damage. The prevalence of<unk>  is estimated to be 3 cases per 100,000 individuals worldwide.<unk>  affects individuals between 5 to 35 years old. Common risk factors of<unk>  include newborns of disease-carrier parents. Less common risk factors include excess non-vegetarian diet. If left untreated,<unk>  will lead to death as the copper accumulation in the liver and brain results in cirrhosis and severe dystonia, respectively. Common complications of<unk>  include hepatocellular carcinoma, renal failure, and persistent neurological manifestations. Prognosis of<unk>  is usually good in case of early detection and proper treatment. Patients with<unk>  may remain asymptomatic until the copper deposits in the liver and brain mainly. Common hepatic symptoms include abdominal distension, abdominal pain, fatigue, bleeding tendency, and esophageal varices. Common neuropsychiatric symptoms include tremors, ataxia, dysarthria, and impulsiveness. Physical examination of patients with<unk>  is usually remarkable for jaundice and easy bruising in the skin. Physical examination also is remarkable for Kayser-Fleischer ring in the eyes as a result of the copper accumulation in the cornea. Laboratory findings suggestive for<unk>  include low ceruloplasmin level, high serum copper concentration and high urinary excretion of the copper. MRI scanning can be used in detecting brain abnormalities especially in the basal ganglia. Medical therapy is the mainstay of therapy for treatment patients with<unk> . The treatment option include penicillamine, trientine, and Zinc. Liver transplantation is reserved for the patients that present with acute liver failure and unresponsive to the medical treatment.
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Leigh's disease
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Cronkhite–Canada disease
Niemann-Pick disease