• Share

Urea Cycle Disorders

These acute illness protocols are guidelines for healthcare professionals treating newborns at risk for urea cycle disorders. The protocols were developed at Boston Children’s Hospital under the direction of Dr. Harvey Levy, Senior Physician in Medicine/Genetics and Dr. Jonathan Picker, Fragile X Program Director.

Each protocol contains:

  • An introduction to the metabolic disorder
  • A description of the pathophysiology involved
  • Presentation of symptoms in the patient
  • Assessments needed for correct diagnosis
  • Detailed therapeutic strategies and potential side effects
  • A description of recovery in the patient

These emergency protocols are intended as guidelines only, and should not be used for definitive treatment without metabolic consultation. Please read our Terms of Use.

Neonate/Infant/Child with Hyperammonemia
Ornithine Transcarbamylase Deficiency (OTC Deficiency)
Carbamyl Phosphate Synthetase 1 Deficiency (CPS I Deficiency)
Argininosuccinic Acid Synthetase Deficiency (Citrullinemia) (AS)
Argininosuccinic Acid Lyase Deficiency (ASA)
Arginase Deficiency

-- Previous