🏥 USMLE Exam Prep

A 6-month-old infant presents with hypoglycemia, lactic acidosis, hyperlipidemia, and hepatomegaly. Physical examination reveals a distended abdomen. Genetic testing confirms a deficiency in glucose-6-phosphatase. This presentation is characteristic of which glycogen storage disease?

A McArdle disease (Type V)
B Pompe disease (Type II)
C Cori disease (Type III)
D Von Gierke disease (Type I)

✓ Correct Answer: Option D

Von Gierke disease (Type I) is caused by a deficiency in glucose-6-phosphatase, leading to impaired glucose production from glycogenolysis and gluconeogenesis. This results in severe fasting hypoglycemia, lactic acidosis, hyperlipidemia, and hepatomegaly.

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