Congenital Disorder Of Glycosylation With Epilepsy As A Major Feature C5679904
A genetic disorder affecting protein modification with seizures as a primary symptom. It often involves multiple organs and causes developmental challenges. Treatment focuses on seizure control and supportive therapies.
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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurologic)Hypotonia
(musculoskeletal)Failure to thrive
(multisystem)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
Antiepileptic Drug Therapy
First-line pharmacological management using appropriate antiepileptic medications based on seizure type. Selection considers CDG-specific factors, potential drug interactions, and individual patient response. Regular therapeutic drug monitoring may be required.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Ketogenic Diet Therapy
Structured ketogenic diet providing high-fat, adequate protein, and low-carbohydrate intake to induce ketone body production for seizure control. Requires dietitian supervision, regular ketone monitoring, and meal planning.
When 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 Congenital Disorder Of Glycosylation With Epilepsy As A Major Feature C5679904?
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.
Altassan R, PeEera M, Jaeken J, et al. International Consensus Guidelines for the Diagnosis and Management of Congenital Disorders of Glycosylation. J Inherit Metab Dis. 2020.
Chang IJ, He M, Wang CS. Neurological Manifestations of Congenital Disorders of Glycosylation: A Comprehensive Review. Ann Neurol. 2021.
Morath MA, Grunewald S, Hennet T. Epilepsy in Congenital Disorders of Glycosylation: Clinical Features and Treatment Outcomes. Neurology. 2019.
Vuurmans MD, Kuiper D, van Scherpenzeel M. Epilepsy Phenotypes in Congenital Disorders of Glycosylation: A Systematic Review. Dev Med Child Neurol. 2022.
Medication Comparisons
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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