Treatment of organic acidurias and urea cycle disorders.

ABSTRACT

Three steps are extremely important in emergency management (awaiting diagnosis) of organic acidurias and urea cycle disorders. The first is to obtain adequate samples (blood and urine) before any treatment, parenteral and/or enteral nutrition with protein-free solution and toxin removal procedures are the second step. Additional therapies with cofactors and vitamins are the last step. It is very important to quickly carry out this strategy every time we suspect an inborn error of metabolism.