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?
- A)Glycogen metabolismGABARITO
- B)Branched-chain amino acid metabolism
- C)Lipoprotein metabolism
- D)Nucleotide metabolism
- 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 →