A 2-day-old newborn presents with severe metabolic acidosis (pH 7.18), vomiting, hypotonia, and altered mental status. Vital signs show tachycardia (HR 145/min), tachypnea (RR 32/min), and hypothermia (36.2°C). Laboratory analysis reveals elevated serum lactate (8.5 mmol/L) and alanine (850 μmol/L), with normal blood glucose. Head ultrasound shows no structural abnormalities. The infant has received no medications. These findings are most consistent with a deficiency of which enzyme?

  1. A)Glutamate dehydrogenase
  2. B)Lactate dehydrogenase
  3. C)Phenylethanolamine N-methyltransferase
  4. D)Pyruvate dehydrogenaseGABARITO
  5. E)Alanine aminotransferase

Explicação

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

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