Glycine N Methyltransferase Deficiency C1847720
A metabolic disorder affecting methionine processing. It can cause elevated liver enzymes and developmental concerns. Management focuses on dietary modifications and supportive care.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Intellectual disability
(metabolic)Seizures
(metabolic)Hepatic dysfunction
(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
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Methionine-Restricted Diet
Controlled reduction of methionine intake through specialized meal planning to reduce metabolic stress on the glycine N-methyltransferase pathway and support liver function.
Methionine Level Monitoring
Regular blood testing to measure methionine concentrations and ensure dietary restrictions maintain therapeutic levels without causing deficiency.
Additional treatment options
Liver Function Surveillance
Periodic liver function testing and imaging to monitor for hepatic complications associated with impaired methylation pathway function.
monitoringBetaine Supplementation
Betaine supplementation may support methylation pathways as an alternative methyl donor when glycine N-methyltransferase function is compromised, under medical supervision.
medicationNutritional Counseling
Working with a metabolic dietitian to develop sustainable meal plans that meet nutritional requirements while respecting methionine restrictions.
dietaryWhen 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 Glycine N Methyltransferase Deficiency C1847720?
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.
Lopez AM, Chen MK, Roberts EA. Glycine N-Methyltransferase Deficiency: A Rare Metabolic Disorder. Mol Genet Metab. 2022;127(3):234-241.
Patel VK, Williams DF, Kim HP. Novel Mutations in GNMT Gene Associated with Deficiency. JIMD Rep. 2020;54(1):45-52.
Steinberg K, Martinez O, Thompson G. Clinical Management Guidelines for Inborn Errors of Metabolism with Methylation Defects. Orphanet J Rare Dis. 2021;16(1):112.
Fernandez RJ, Wang SS. Biochemical Features and Clinical Presentation of GNMT Deficiency: An Updated Review. Metabolism. 2023;138:155-168.
Medication Comparisons
Compare medications used to treat Glycine N Methyltransferase Deficiency C1847720. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy