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Pediatrics Inborn Errors of Metabolism c0996bf2

Wilson disease all are true except -

A
AR
B
KF ring
C
Raised copper level
D
Raised ceruloplasmin level
High-Yield Explanation
Ans. is 'd' i.e., Raised ceruloplasmin level Wilson diseaseo Autosomal recessive.o Degenerative changes in brain, liver and KF ring in cornea (Descement membrane),o Defect in Copper metabolism (copper toxicosis).o Best screeing test is to measure serum ceruloplasmin,o Decrease ceruloplasmin in WDo Failure of copper to be incorporated into ceruloplasmin leads to plasma protein with shorter TlA which leads to decrease ceruloplasmin level.

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