Arginine Glycine Amidinotransferase Deficiency C2675179
A rare metabolic disorder impairing creatine production, which may cause neurological symptoms, movement difficulties, and developmental delays.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Global developmental delay
(neurological)Speech and language impairment
(neurological)Movement disorder
(neurological)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
Creatine supplementation
Oral creatine monohydrate supplementation to address reduced creatine synthesis characteristic of AGAT deficiency, helping support brain and muscle energy metabolism.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Glycine-enriched diet
Dietary glycine supplementation to compensate for the enzymatic deficiency and support normal metabolic pathways affected by arginine:glycine amidinotransferase deficiency.
Additional treatment options
Metabolic parameter surveillance
Regular monitoring of biochemical markers including guanidinoacetic acid, creatine, and related metabolites to assess treatment efficacy and metabolic balance.
monitoringAmmonia-lowering agents (if indicated)
Supportive pharmacotherapy for management of any secondary hyperammonemia or metabolic complications that may arise with the deficiency.
medicationMetabolic emergency planning
Development of emergency action plans and avoidance strategies for metabolic stressors such as fasting, illness, or dehydration that may precipitate complications.
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 Arginine Glycine Amidinotransferase Deficiency C2675179?
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.
Battini R, Bianchi MC, Casarano M. Clinical practice guidelines for arginine:glycine amidinotransferase deficiency. J Inherit Metab Dis. 2022.
Mercelis R, De Deyn P, Van der Zee E. Neurological manifestations of AGAT deficiency: a systematic review. Orphanet J Rare Dis. 2021.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N. Creatine supplementation therapy for AGAT deficiency: a pilot study. Mol Genet Metab. 2020.
Braissant O, Beard J, Ballard T. Creatine deficiency syndromes: the arginines. Handb Clin Neurol. 2019.
Medication Comparisons
Compare medications used to treat Arginine Glycine Amidinotransferase Deficiency C2675179. 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