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The Essential Element.
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- Abstract:
The article describes the case of a 21-year-old female patient diagnosed with Wilson's disease, an autosomal recessive disorder that is characterized by ineffective hepatic copper metabolism. Inactivating mutations in the ATP7B gene are the cause of the disease. Symptoms exhibited by the patient included progressive fatigue and weakness, dark-colored urine, and syncope without injury. Chelating agents that induce urinary copper excretion and copper-absorption inhibitors are therapeutic options.
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