A term male infant is born via elective cesarean delivery with a birthweight of 3.2 kg to a Gravida 2 Para 1 mother. The prenatal course was unremarkable, and there is a consanguineous relationship between the parents (first cousins). The infant’s Apgar scores are 9 and 9 at 1 and 5 minutes of life, respectively. The initial newborn examination is normal. The infant is allowed to room in with his mother and is exclusively breastfed. At 27 hours of age, the infant is brought to the nursery for poor feeding. On repeat examination, he is found to be hypotonic and apneic with poor perfusion. Vital signs show temperature of 92.5°F (33.6°C), heart rate of 40 beats/min, and oxygen saturations of ∼80% on room air. Point of care blood glucose is less than the detectable range. Initial blood gas reveals severe metabolic acidosis with pH of 7.1, base deficit of 22.5...

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