A 25-year-old member asked:
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what causes wilson's disease?

3 doctor answers
Dr. James Ferguson
45 years experience Pediatrics
Genetic defect: Wilson disease is a defect in the bodies handling of copper ingested in the diet.A gene is inherited from both asymptomatic carrier parents that encodes the wrong information on copper metablolism.The proper carrier protein that is supposed to bind and take copper to be removed is not formed. Over time the copper begins to accumulate in tissues in toxic amounts.
Answered on Jul 20, 2012
Dr. Harold Peltan
27 years experience Ophthalmology
Genes: Wilson's disease is due to mutations in the wilson disease protein (atp7b) gene. Wilson's - konovalov's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues like the liver and cornea; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication and sometimes liver transplant.
Answered on Feb 18, 2016
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Dr. Ed Friedlander
43 years experience Pathology
Genetic mutation: With defective ATP7B gene product, liver cells cannot get their copper into the bile, and generally the processing of copper is deranged.
Answered on Aug 9, 2014

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