BUrea cycle disorders
First line
Urea cycle disorders
First line
In urea cycle disorders caused by carbamoyl phosphate synthetase 1 (CPS1) or ornithine transcarbamylase (OTC) deficiency, the body cannot make enough arginine and ammonia builds up in the blood. L-citrulline acts as an arginine precursor and enters the urea cycle downstream of the blocked enzyme, so it restores arginine and supports nitrogen removal. The international guideline on urea cycle disorders (Häberle, 2019) and the Spanish paediatric drug reference list citrulline as part of standard maintenance therapy for these forms, alongside protein restriction and nitrogen-scavenging drugs. A 2023 review found that citrulline raises plasma arginine into the normal range more effectively than arginine itself because of its higher bioavailability. Dosing and monitoring are handled by a metabolic specialist, and self-treatment is not appropriate for these diagnoses.
Sources
- Journal of Inherited Metabolic Disease: Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision (2019)
- Orphanet Journal of Rare Diseases: Citrulline in the management of patients with urea cycle disorders (2023)
- Pediamecum, Asociacion Espanola de Pediatria (AEP): L-citrulina (ficha Pediamecum) - Comite de Medicamentos, Asociacion Espanola de Pediatria (2020)
ICD-10: E72.2 · ICD-11: 5C50.A