Glycogen Storage Disease Patterns | USMLE Step 1
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A 24-year-old man has an acutely painful, swollen first metatarsophalangeal joint. Since infancy, he has required frequent carbohydrate intake to prevent fasting hypoglycemia and has had persistent hepatomegaly. Synovial fluid contains needle-shaped, negatively birefringent crystals. His serum urate is 11.4 mg/dL (reference 3.5–7.2), plasma lactate is 4.6 mmol/L (reference 0.5–2.2), and serum creatinine is 0.8 mg/dL (reference 0.7–1.3).