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Biochemistry General b9eb5bea

Which of the following is not true regarding wilson's disease

A
ATP7B mutation leading to impairment in copper metabolism
B
Most specific screening test is Urinary excretion of copper
C
Gold standard test is liver biopsy
D
KF ring is present in upto 30% cases
High-Yield Explanation
KF ring is present in upto 99 % of cases. ATP 7B mutation results in defective biliary copper excretion into bile as copper can't be incorporated into apoceruloplasmin. Thus copper accumulates in excess amounts in liver and brain. The copper accumulation in descemets membrane of cornea is manifested as KF rings, in the eye.

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