Disorder Of The Urea Cycle Metabolism C0154246
A genetic disorder where the body cannot properly remove ammonia, a waste product. Treatment involves special diet, medication, and sometimes liver transplant.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Seizures
Lethargy
(neurologic)Vomiting
(gastrointestinal)Failure to thrive
(developmental)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
Protein-Restricted Diet
Lifelong dietary management limiting protein intake to reduce ammonia production. Nutritionists calculate individual protein requirements based on age, weight, and severity of enzyme deficiency.
Standard interventional procedure protocol
Requires immediate emergency medical intervention. Do not delay treatment.
Nitrogen Scavenger Therapy
Medications such as sodium phenylbutyrate or sodium benzoate that provide alternative pathways for nitrogen excretion, reducing ammonia accumulation in the bloodstream.
Additional treatment options
Ammonia Level Surveillance
Regular blood testing to monitor ammonia levels and prevent hyperammonemic episodes. Frequency increases during illness or metabolic stress.
monitoringEmergency Hyperammonemia Protocol
Hospital-based aggressive treatment protocol for acute hyperammonemia including IV medications, possible dialysis, and intensive care admission.
procedureLiver Transplantation
Definitive surgical treatment replacing the affected liver with normal liver enzyme function in severe or refractory cases of urea cycle disorders.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Disorder Of The Urea Cycle Metabolism C0154246?
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.
Haberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: a supplementary paper. Orphanet J Rare Dis. 2021;16(1):423.
Nagamani SCS, Eble A, Gropman AL, et al. Acute decompensation in patients with urea cycle disorders: pathogenesis and management strategies. J Inherit Metab Dis. 2020;43(4):670-688.
Berry GT, Segal S, Gropman AL, et al. Long-term outcome and monitoring of patients with urea cycle disorders. Mol Genet Metab. 2019;128(4):412-422.
Häberle J, Rubio V, Moro D, et al. Current controversies in the management of urea cycle disorders: a systematic review. Orphanet J Rare Dis. 2022;17(1):151.
Medication Comparisons
Compare medications used to treat Disorder Of The Urea Cycle Metabolism C0154246. 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