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Glycogen storage disease type I — RACP Paediatrics MCQ

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HardEndocrineGlycogen storage disease type IRACP Paediatrics

A 6-month-old presents with hypoglycaemia and hepatomegaly. The hypoglycaemia occurs within 4 hours of fasting. There is lactic acidosis and hypertriglyceridaemia. Liver biopsy shows massive glycogen accumulation. What is the most likely diagnosis?

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Correct answer: A — Glycogen storage disease

Fasting hypoglycaemia with hepatomegaly, lactic acidosis, and glycogen accumulation on liver biopsy in an infant is consistent with glycogen storage disease type I (von Gierke disease/glucose-6-phosphatase deficiency). Management includes frequent feeds and uncooked cornstarch to prevent hypoglycaemia.

Reference: RACP Paediatric Curriculum – Metabolic/Endocrine; RCH Melbourne – 2023 – Metabolic Disease CPG