Approach to inborn errors of metabolism (acute) Quiz: Ace Your Exams
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A 36-hour-old infant delivered at 38 weeks' gestation via spontaneous vaginal delivery is evaluated in the nursery for poor feeding, lethargy, and non-bloody, non-bilious emesis. Pregnancy and delivery were uneventful. The mother is group B Streptococcus negative. The infant is formula-fed. There is no temperature instability or rash. Temperature is 37°C (98.6°F), pulse is 160/min, respirations are 41/min, blood pressure is 70/42 mm Hg, and oxygen saturation is 96% on room air. Physical examination reveals lethargy, jaundice, and hepatomegaly. The anterior fontanelle is open and flat. A complete blood count and urinalysis are normal, but transaminases are elevated. Bedside serum glucose level is 36 mg/dL. Blood and urine cultures and an ammonia level are pending. Which of the following is the best next step in management?
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