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 carry out quickly this strategy every time we suspect an inborn error of metabolism.

Keywords:

• Inborn errors
• metabolism
• urea cycle defect
• organic aciduria

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.