In Asian populations, this disease is most commonly caused by an arginine-to-leucine point mutation at position 778 of the gene responsible for it, while among Western populations, it can be caused by a deletion of cysteine at position 3402 or a histidine-to-glutamine point mutation at position 1069.
In Asian populations, this disease is most commonly caused by an arginine-to-leucine point mutation at position 778 of the gene responsible for it, while among Western populations, it can be caused by a deletion of cysteine at position 3402 or a histidine-to-glutamine point mutation at position 1069. That gene, found on chromosome 13, codes for a P-type cation transport ATPase called ATP7B. This disease causes liver damage via Fenton-like chemistry and deposition in Descemet's membrane called Kayser-Fleischer rings, and often results in decreased ceruloplasmin levels. After treatment, patients often take zinc acetate to prevent an excess amount of a particular element. Usually treated with penecillamine or chelating agents like syprine, for 10 points, name this condition, the most common cause of copper accumulation in the body.
In Asian populations, this disease is most commonly caused by an arginine-to-leucine point mutation at position 778 of the gene responsible for it, while among Western populations, it can be caused by a deletion of cysteine at position 3402 or a histidine-to-glutamine point mutation at position 1069.
Wilson's disease [or hepatolenticular degeneration]