Carbohydrate Metabolism · NEET PG Preparation Biochemistry
A 6-month-old infant is brought to the emergency department with recurrent episodes of severe fasting hypoglycemia, hepatomegaly, and doll-like facie…
Practice question from Carbohydrate Metabolism (NEET PG Preparation Biochemistry), with the correct answer and a step-by-step solution.
medium · MCQ · Q-A0ADEE
A 6-month-old infant is brought to the emergency department with recurrent episodes of severe fasting hypoglycemia, hepatomegaly, and doll-like facies. Laboratory investigations reveal marked hyperuricemia, hyperlactatemia, and hyperlipidemia. A liver biopsy shows accumulation of glycogen with normal structure. Which of the following enzyme deficiencies is most likely responsible for this clinical presentation?
- A.Glucose-6-phosphataseCorrect answer
- B.Alpha-1,4-glucosidase
- C.Glycogen phosphorylase
- D.Amylo-1,6-glucosidase
Solution
The clinical presentation of fasting hypoglycemia, hepatomegaly, doll-like facies, hyperlactatemia, hyperuricemia, and hyperlipidemia in an infant is characteristic of von Gierke disease (Glycogen Storage Disease Type I), caused by a deficiency of glucose-6-phosphatase.
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