Reduced Hepatic N Acetylglutamate Synthase Activity C5937004
A urea cycle disorder where the liver cannot properly process ammonia for excretion. Treatment involves nitrogen-scavenging medications and protein restriction.
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
Encephalopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Vomiting
(metabolic)Respiratory alkalosis
(metabolic)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 care
Active treatment with regular monitoring by a healthcare provider is recommended.
N-carbamylglutamate replacement
Synthetic N-acetylglutamate analog that activates carbamoyl phosphate synthetase I, bypassing the enzymatic defect to restore urea cycle function and reduce toxic ammonia accumulation.
Protein restriction
Carefully controlled dietary protein intake to minimize nitrogen waste production, reducing the metabolic burden on the compromised urea cycle.
Additional treatment options
Nitrogen scavenger therapy
Pharmacological agents such as sodium phenylbutyrate or sodium benzoate that provide alternative pathways for nitrogen excretion, helping to reduce hyperammonemia episodes.
medicationRegular ammonia and amino acid monitoring
Frequent laboratory surveillance of blood ammonia levels and plasma amino acids to detect metabolic decompensation early and guide treatment adjustments.
monitoringEmergency metabolic crisis protocol
Development of a personalized action plan for illness, stress, or high protein intake situations to prevent catastrophic hyperammonemia episodes through early intervention.
lifestyleWhen 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 Reduced Hepatic N Acetylglutamate Synthase Activity C5937004?
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, Boddaert N, Burlina A, Chakrapani A, Dixon M, Greenwood J. Clinical practice guidelines for urea cycle disorders: a consensus statement. J Inherit Metab Dis. 2020.
Caldwell JT, Smith KR, López-Rivera RM. N-Acetylglutamate synthase deficiency: clinical manifestations and therapeutic approaches. Mol Genet Metab. 2021.
García-Cazorla A, Martínez-Pardo M, Fernández-Blanco L, Torres-Sánchez R. Carglumic acid therapy in N-acetylglutamate synthase deficiency: long-term outcomes. Orphanet J Rare Dis. 2019.
Moïsi M, Bonte FA, Novelli G, Vitali F. Genetic and metabolic profiling of urea cycle disorders: a systematic review. J Clin Metab. 2022.
Medication Comparisons
Compare medications used to treat Reduced Hepatic N Acetylglutamate Synthase Activity C5937004. 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