Acute Neonatal Citrullinemia Type I C5679618
A rare genetic disorder where newborns cannot properly break down ammonia, causing toxic buildup in the blood. Symptoms appear within days of birth. Requires immediate treatment to remove ammonia, often through special filtering machines.
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
Hypotonia
(neuromuscular)Lethargy
(neurologic)Vomiting
(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
Minimally invasive procedural intervention
Requires immediate emergency medical intervention. Do not delay treatment.
Nitrogen Scavenger Therapy
Nitrogen-scavenging medications such as sodium benzoate and sodium phenylbutyrate are administered to provide alternative pathways for nitrogen excretion, reducing toxic accumulation of ammonia and citrulline.
Protein-Restricted Diet
A carefully controlled low-protein diet is implemented to minimize amino acid intake, particularly arginine, which cannot be properly metabolized due to the deficient enzyme pathway.
Additional treatment options
Ammonia and Amino Acid Monitoring
Frequent laboratory monitoring of plasma ammonia levels and amino acid profiles guides treatment adjustments and helps prevent neurological damage from hyperammonemia.
monitoringDialysis for Hyperammonemia
In severe hyperammonemic crises, hemodialysis or continuous renal replacement therapy may be necessary to rapidly remove ammonia and prevent life-threatening cerebral edema.
procedureLiver Transplantation Evaluation
Orthotopic liver transplantation may be considered for patients with severe, refractory citrullinemia who do not respond adequately to medical management, as the liver is the primary site of deficient enzyme activity.
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 Acute Neonatal Citrullinemia Type I C5679618?
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. J Inherit Metab Dis. 2019;42(6):1192-1227.
Nagamani SCS, Erez A, Lee B. Argininosuccinate synthetase deficiency and citrullinemia. In: Valle D, Beaudet AL, Vogelstein B, et al., eds. OMMBID. McGraw-Hill; 2021.
Lichter-Konecki U, Nagel M, Stoltenburg-Didinger G, et al. Neonatal citrullinemia type I: Clinical course and outcome in 12 patients treated with carglumic acid. Mol Genet Metab. 2015;114(2):S78-S79.
Häberle J, Rubio V. Ammonia detoxification. In: Blau N, Dionisi Vici C, Ferreira CR, et al., eds. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer; 2022:45-68.
Medication Comparisons
Compare medications used to treat Acute Neonatal Citrullinemia Type I C5679618. 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 20, 2026. · Read our editorial policy