All of the following are true about Wilson disease EXCEPT:
Wilson disease AR disorder caused by a mutation of ATP7B gene on chromosome 13. Raised serum free copper levels. Decreased ceruloplasmin levels (<20 mg/dL). |ed hepatic copper levels (>250 mg/g dry weight of liver) |ed urinary copper excretion. Clinical features : Hepatic- Hepatomegaly , Hepatitis , Liver failure , poal hypeension , ascites Hematologic- Hemolytic anemia CNS- Tremors, dysahria, dystonia, chore. Eye- KF ring ( Kayser Fleischer ring) and Sunflower cataract Renal- Fanconi syndrome, Renal failure
AR inheritance
KF ring
Raised serum copper level
Raised ceruloplasmin level
Liver disorders