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Pediatrics Inborn Errors of Metabolism e113b6ce

Congenital Wilson's disease is characterized by:

A
KF ring is present at birth
B
May present as acute hepatitis
C
Decreased urinary copper excretion
D
Decreased hepatic copper concentration
High-Yield Explanation
b. May present as acute hepatitis(Ref: Nelson's 20/e p 1939-1940, Ghai 8/e p 320-321)Kayser-Fleischer rings are absent in young patients with hepatic Wilson disease up to 50% of the time but are present in 95% of patients with neurologic symptoms.

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