A 12-year-old boy with short stature presents with fasting hypoglycemia (45 mg/dL), hepatomegaly, and a bleeding diathesis. Vital signs show BP 95/60, HR 102, RR 18, temp 37°C, SpO2 98%. Laboratory studies reveal lactate 8 mmol/L (normal <2), triglycerides 650 mg/dL, cholesterol 280 mg/dL, and uric acid 9 mg/dL. Renal ultrasound shows bilateral kidney enlargement. He denies acetaminophen use. This patient most likely has a deficiency of which of the following metabolic processes?

  1. A)Glycogen metabolismGABARITO
  2. B)Branched-chain amino acid metabolism
  3. C)Lipoprotein metabolism
  4. D)Nucleotide metabolism
  5. E)Lysosomal glycolipid metabolism

Explicação

The correct answer is B. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →

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