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Pediatrics Inborn Errors of Metabolism 9129d80a

An infant has hepatosplenomegaly, hypoglycemia, hyperlipidemia, acidosis and normal structured glycogen deposition in liver. What is the diagnosis?

A
Her's disease
B
Von Gierke's disease
C
Cori's disease
D
Anderson's disease
High-Yield Explanation
b. Von Gierke's disease(Ref: Nelson's 20/e p 715-725, Ghai 8/e p 655-657)Hepatorenomegaly, hypoglycemia, hyperlipidemia, acidosis and normal structured glycogen deposition in liver is suggestive of Von Gierke's disease; Normal structured glycogen excludes options c. Cori's and d. Anderson's disease.

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