All are impoant pathological features noted in ATP 7B gene mutation, EXCEPT:
ATP7B protein deficiency impairs Biliary copper excretion resulting in positive copper balance Hepatic copper accumulation Copper toxicity from oxidant damage It leads to low serum ceruloplasmin due to excess catabolism of apoceruloplasmin. Low serum copper is due to low ceruloplasmin level. Non ceruloplasmin bound copper level will be high-free copper. Ref: Harrison, E-18, P-3188.
Low serum ceruloplasmin
Low serum free copper
Low serum copper
Positive copper balance