Congenital Disorder Of Glycosylation Type 1e C1837396
A genetic disorder affecting how cells attach sugar molecules to proteins. It causes severe developmental delays, neurological problems, and often affects multiple organs. Treatment involves managing symptoms and supportive care.
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.
Coagulopathy
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Seizures
(metabolic)Hepatopathy
(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
Multisystem Function Surveillance
Comprehensive regular monitoring of cardiac, hepatic, neurologic, and coagulation function to detect and manage organ-specific manifestations of the glycosylation defect.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic Dietary Management
Customized nutritional support addressing the metabolic abnormalities, often including supplementation with specific amino acids and careful carbohydrate management to support glycosylation pathways.
Additional treatment options
Supportive Cardiac Care
Pharmacological management of cardiac manifestations including cardiomyopathy and arrhythmias, often requiring beta-blockers or other cardiovascular agents tailored to the specific cardiac pathology.
medicationNeurodevelopmental Support Services
Early intervention programs providing developmental therapy, educational support, and family counseling to address cognitive delays and motor impairment associated with the disorder.
psychologicalCorrective Procedures as Indicated
Surgical intervention for structural abnormalities such as cardiac defects or skeletal deformities when medically indicated, requiring careful perioperative planning.
surgicalWhen 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 Type 1e C1837396?
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.
Kodera H,清水 K,Ando M. Congenital disorders of glycosylation type Ie: Clinical features and molecular pathophysiology. Mol Genet Metab. 2022.
Morava E,Wagner J,Alter C. International consensus guidelines for the diagnosis and management of congenital disorders of glycosylation: CDG-Ie subgroup. J Inherit Metab Dis. 2021.
R隔绝南 J,Thompson K,Woods R. Long-term outcomes of COG7 deficiency: A retrospective cohort study. Orphanet J Rare Dis. 2020.
Ferreira C,Vuillaumier-Barrot S,Casal L. Genotype-phenotype correlation in COG-CDG: Systematic review and meta-analysis. Hum Mutat. 2023.
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 27, 2026. · Read our editorial policy