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Call a Medical Geneticist immediately, if ammonia levels are elevated 

The causes of hyperammonemia are diverse and it may include liver failure, infection, medications, and inborn errors of metabolism (IEMs).1 The latter can be the most difficult to recognize, given an overall prevalence of IEMs at approximately 10-15 in every 100,000 births.2 

  • Call a Medical Geneticist immediately, if ammonia levels are elevated. Time is critical!
  • Coordinate treatment and transfer with the Medical Geneticist. 

References:

  1. Clay AS. Hyperammonemia in the ICU. Chest. 2007 Oct;132(4):1368-78.
  2. Feuchtbaum J, et al. Genet Med 2012:14(11):937-945.

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