Citrullinemia Type I C4721769
A metabolic disorder where the body cannot properly break down certain amino acids from proteins. This causes harmful substances to build up, affecting the brain and nervous system. It is managed through a strict low-protein 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
Hyperammonemia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Vomiting
(gastrointestinal)Lethargy
(neurologic)Hepatomegaly
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Strict Protein-Restricted Diet
Lifelong dietary management restricting natural protein intake while ensuring adequate calories and essential nutrients. Calculated using gram-per-kilogram formulas individualized to each patient based on enzyme activity levels and growth requirements.
Nitrogen Scavenger Therapy
Ammonia-lowering medications such as sodium phenylbutyrate or sodium benzoate that provide alternative pathways for nitrogen excretion. Dosing is titrated based on plasma amino acid and ammonia levels.
Additional treatment options
Metabolic Crisis Prevention Protocol
Frequent plasma amino acid analysis and ammonia monitoring with sick-day protocols for illness, surgery, or stress. Home ammonia testing enables early detection of hyperammonemic episodes requiring urgent intervention.
monitoringSpecialized Amino Acid Formulas
Protein substitute formulas providing essential amino acids without nitrogen load, supplemented with vitamins, minerals, and carnitine. Essential for preventing deficiencies and supporting normal growth and metabolism.
dietaryLiver Transplantation for Severe Disease
Orthotopic liver transplantation for patients with severe neonatal citrullinemia or recurrent hyperammonemic crises despite optimal medical therapy. Provides enzyme replacement and corrects urea cycle dysfunction.
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 Citrullinemia Type I C4721769?
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. Clinical practice guidelines for the management of urea cycle disorders. J Inherit Metab Dis. 2019.
Seminara J, Rodriguez-Buritica DF, Enns GM, et al. Diagnosis and management of citrullinemia type I: a review of current perspectives. Orphanet J Rare Dis. 2021.
Tortorelli S, Keener CL, Braverman NE, et al. Newborn screening for citrullinemia type I: a multi-center evaluation of screening algorithms and outcomes. Mol Genet Metab. 2020.
Mazariego MR, Hernandez VM, Pena-Quintana L, et al. Nutritional management of citrullinemia type I: dietary approaches and long-term outcomes. Clin Nutr ESPEN. 2023.
Medication Comparisons
Compare medications used to treat Citrullinemia Type I C4721769. 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 25, 2026. · Read our editorial policy