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Pediatrics Inborn Errors of Metabolism 81fb0cc5

Metabolic abnormalities in which jaundice is seen are all of the following except?

A
Von Gierke disease
B
Galactosemia
C
Tyrosinemia
D
Hereditary fructose intolerance
High-Yield Explanation
a. Von Gierke disease(Ref: Nelson 20/e p 716)In Von Gierke disease, hepatic carbohydrate metabolism is affected, which is responsible for plasma glucose homeostasis. So, fasting hypoglycemia and hepatomegaly is seen. Despite, marked hepatomegaly, the liver transaminase levels are usually normal or only slightly elevated. Jaundice is usually not seen.

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