There is a seemingly endless number of inborn errors of metabolism, and many of these children can present acutely to the emergency room. As emergency medicine physicians, we may not be experts in each of these diseases - but we still need to know how to resuscitate and care for these patients. Below is a general outline on how to approach most inborn errors of metabolism and general guidelines for resuscitation (besides the usual ABCs, IV, O2, monitor).
It is the middle of the Covid-19 pandemic. A 9 yo male presents with one week of flu-like symptoms. You wonder if this is just a viral syndrome or something more ominous as you head for the room....(it is something more ominous)
A 1 week old male born at full term presents to the ED with difficulty breathing and a weak cry. Mom also notes that he appears “sweaty” during feeds today and has had fewer wet diapers. History is significant for scant prenatal care however delivery was uncomplicated. On exam he is cyanotic with oxygen saturation 70% on 5L NC O2. Vital signs are as follows: T 36C, HR 180, RR 65, BP 60/30. Which should you order first?