A newborn male infant presents with profound acidemia and abnormal head ultrasonography findings.

The delivery, which occurred at home without medical supervision, was vaginally into a toilet in which the baby remained until paramedics arrived at approximately 20 minutes after birth. Upon their arrival, an Apgar score of 9 was assigned. The infant was warmed, dried, and transported to the community hospital. Birthweight was 2,300 g. The infant was admitted initially to the well newborn nursery. However, 6 hours after arrival, the infant exhibited increased respiratory distress.

A blood gas drawn from an umbilical venous line revealed:

The infant was transported to a neonatal intensive care unit (NICU).

On arrival to the NICU, the patient was intubated and placed on mechanical ventilation. An echocardiogram revealed normal cardiac structure and function. The blood lactate level was elevated at 225.2 mg/dL (25 mmol/L). Blood ammonia concentration also was elevated at 518 mmol/L....

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