Newborn screening for inherited metabolic disease

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, hypo-clycimia, or latic acidemia.