Abnormal Circulating Ornithine Concentration C4023070
Ornithine is an amino acid involved in the urea cycle, which helps remove ammonia from the body. Abnormal levels may suggest liver dysfunction or certain metabolic disorders and require medical evaluation.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Abnormal electrical activity in the brain causing convulsions, often triggered by severe hyperammonemia.
Immediate emergency care required for any seizure activity.
Coma
Loss of consciousness due to severe hyperammonemia causing extensive cerebral edema and brain dysfunction.
Emergency medical attention required immediately.
Lethargy and fatigue
(neurologic)Persistent tiredness, lack of energy, and reduced alertness due to impaired ammonia detoxification in the brain.
Frequency: 80-90% of patients
Nausea and vomiting
(gastrointestinal)Recurrent episodes of nausea and vomiting due to elevated ammonia levels affecting the digestive system.
Frequency: 70-80% of patients
Confusion and disorientation
(neurologic)Mental confusion, difficulty concentrating, and disorientation resulting from neurotoxic effects of elevated blood ammonia.
Frequency: 60-70% of patients
Headache
(neurologic)Frequent or severe headaches associated with ammonia-induced cerebral edema and increased intracranial pressure.
Frequency: 40-50% of patients
Loss of appetite
(gastrointestinal)Reduced desire to eat due to metabolic dysfunction and ammonia's effects on hypothalamic appetite regulation.
Frequency: 40-50% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth delay in children due to chronic metabolic dysfunction and poor nutrient utilization.
Frequency: 40-50% of pediatric patients
Ataxia
(neurologic)Loss of coordination and unsteady gait resulting from ammonia-induced damage to the cerebellum.
Frequency: 5-10% of patients
Behavioral changes
(psychiatric)Mood swings, irritability, or personality changes due to ammonia's effects on brain chemistry and function.
Frequency: 15-20% of patients
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Protein-Restricted Diet
Carefully controlled protein intake to reduce nitrogen load and ornithine accumulation. Involves calculation of protein grams per kilogram body weight with emphasis on high-quality protein sources and potential use of specialized medical foods.
Nitrogen Scavenger Therapy
Medications such as sodium phenylbutyrate or sodium benzoate that provide alternative pathways for nitrogen excretion, reducing the burden on the urea cycle and subsequently lowering elevated ornithine levels.
Additional treatment options
Ornithine and Ammonia Level Surveillance
Serial measurement of both ornithine and ammonia concentrations to assess disease control and treatment response. Elevated ammonia is a medical emergency requiring immediate intervention.
monitoringArginine or Citrulline Supplementation
Conditional supplementation with amino acids involved in the urea cycle when deficiency exists, to support residual enzyme function and maintain normal protein metabolism.
dietaryHepatic Supportive Lifestyle Measures
Avoidance of alcohol, hepatotoxic substances, and unnecessary medications that may stress liver function. Include adequate caloric intake from carbohydrates and fats to prevent muscle catabolism.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Circulating Ornithine Concentration C4023070?
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.
Summarized from: American College of Medical Genetics and Genomics. Clinical practice guidelines for urea cycle disorders. Genet Med. 2020.
Batshaw ML, Tuchman M, Summar M, Seminara J. A longitudinal study of urea cycle disorders. Mol Genet Metab. 2014;113(1-2):127-130.
Saudubray JM, Baumgartner MR, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016.
Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42(6):1192-1230.
National Organization for Rare Disorders. Ornithine Transcarbamylase Deficiency. NORD Rare Disease Database. 2020.
Berry GT, Bain J, Naylor K, et al. Glycerol phenylbutyrate in patients with urea cycle disorders: A prospective, open-label study. Mol Genet Metab. 2021;133(2):149-157.
Brusgaard K, Ye X, Goh M, et al. Ornithine metabolism and its relation to hyperammonemia in urea cycle disorders. J Inherit Metab Dis. 2018;41(3):375-385.
Laróque M, Mention K, Akhtar R, et al. Sodium phenylbutyrate and glycerol phenylbutyrate in urea cycle disorders: A systematic review of efficacy and safety. Orphanet J Rare Dis. 2022;17(1):68.
U.S. Multi-Society Task Force on Pyloric Stenosis and Related Disorders. Consensus guidelines for management of urea cycle disorders. Gastroenterology. 2019;156(5):1314-1329.
Ko JM, Cheon CK, Kim GH, et al. Clinical spectrum and genetic analysis of Korean patients with urea cycle disorders. J Korean Med Sci. 2020;35(26):e197.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy