Metabolic Emergencies

Key Facts

• The classic presentation of inborn errors of metabolism is with a free period of apparent health that may last days or even years, but it is followed by overwhelming life threatening disease.

• The episode usually follows catabolism introduced usually by acute infection; sometimes after surgery.

• Initial laboratory evaluation needs only the routine clinical laboratory to establish acidosis or alkaoisis, hyperammonemia, ketosis, hypocly-cimia, or latic acidemia.