Glycogen storage disorders Quiz: Ace Your Exams

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A 5-month-old girl is brought to the clinic due to difficulty feeding. Her parents have noticed she has been irritable and sweats excessively while feeding. Her birth was unremarkable; however, she has not been able to sit up or crawl yet. Her family immigrated from Nigeria 2 months ago. Temperature is 36.4°C (97.5°F), pulse is 152/min, blood pressure 84/64 mmHg, and respiratory rate is 65/min. Her weight is less than the 5th percentile for her age. Motor examination reveals hypotonia in all 4 limbs. Abdominal examination is unremarkable. Echocardiogram reveals biventricular hypertrophy. Laboratory investigations reveal markedly elevated creatine kinase levels. Fingerstick glucose is 70 mg/dL. Deficiency of which of the following enzymes is responsible for this patient’s symptoms? 

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