Adult Onset Citrullinemia Type I C0268546
A rare metabolic condition where the body cannot properly clear ammonia. Can cause brain and liver problems in adults. Treated with special diet and medications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hyperammonemic encephalopathy
Cerebral edema
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cognitive impairment
(neurological)Protein intolerance
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Protein Restriction Therapy
Restricted dietary protein intake to reduce nitrogen load and citrulline accumulation. A specialized medical nutrition plan is developed with a metabolic dietitian to ensure adequate essential amino acid intake while minimizing protein catabolism.
Nitrogen Scavenger Therapy
Sodium phenylbutyrate or sodium benzoate administration to enhance alternative nitrogen excretion pathways, reducing toxic metabolite accumulation in the urea cycle.
Additional treatment options
L-Arginine Supplementation
Supplemental L-arginine to support remaining urea cycle function and reduce hyperammonemia risk in citrullinemia patients.
medicationMetabolic Monitoring Protocol
Regular plasma amino acid analysis, ammonia levels, and liver function tests to guide treatment adjustments and detect metabolic crises early.
monitoringLiver Transplantation
Definitive surgical treatment that replaces the deficient enzyme-producing liver tissue, restoring urea cycle function in patients with severe citrullinemia unresponsive to medical management.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Adult Onset Citrullinemia Type I C0268546?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First edition. Orphanet J Rare Dis. 2019.
Caldovic L, Abdikarim I, Narain S, et al. Molecular genetics of citrullinemia types I and II. Results Probl Cell Differ. 2019.
Matsumoto S, Häberle J, Kido J, et al. Sodium benzoate in the treatment of citrullinemia type 1: A systematic review. Mol Genet Metab. 2022.
Scriver CR, Beaudet AL, Sly WS, Valle D. Urea cycle disorders. In: The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2020.
Medication Comparisons
Compare medications used to treat Adult Onset Citrullinemia Type I C0268546. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy