Glycogen storage disease type I Quiz: Ace Your Exams
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A 5-month-old girl is brought to the clinic for evaluation of abdominal distention. The mother states that although she feeds her frequently, she has “barely grown.” Her birth was unremarkable, and she can roll over on her own. Height and weight are below the 10th percentile. Temperature is 36.4°C (97.5°F), pulse is 144/min, blood pressure is 86/62 mmHg, and respiratory rate is 48/min. Motor examination reveals hypotonia in all 4 limbs. Abdominal examination reveals ascites. The liver and spleen are enlarged and palpable. Liver biopsy shows hepatocytes that stain positive with Periodic acid-Schiff (PAS). Further analysis reveals an accumulation of abnormal structures of glycogen with fewer branch points and longer alpha-1-4-linked glucose polymers within hepatocytes. Which of the following biochemical processes is most impaired in this patient?
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