Which of the following is not true regarding wilson’s disease
Correct Answer: KF ring is present in upto 30% cases
Description: 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.
Category:
Biochemistry
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