Copper overload: Each parent is a carrier and the patient has two defective copies of the atp7b gene, making it impossible to pump copper out of certain cells. Damage to the brain and liver is the most severe, but there is also hemolysis and dysfunction of the proximal kidney tubule. It's missed from time to time with disastrous results; screening labs are famously unreliable.
Answered 1/19/2014
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