Alg2 Congenital Disorder Of Glycosylation C1842836
A rare genetic disorder affecting how cells attach sugar molecules to proteins. It typically appears in infancy and causes developmental delays, seizures, and other organ issues. Treatment focuses on 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.
Warning signs - seek immediate care
Treatment-resistant epilepsy
Recurrent bacterial infections
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurological)Abnormal coagulation studies
(hematologic)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
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic and hepatic function surveillance
Regular laboratory monitoring of liver function, metabolic panels, and coagulation studies to detect and address organ involvement.
Coagulopathy management
Treatment of bleeding diathesis and coagulation abnormalities with appropriate clotting factor support or antifibrinolytic agents as indicated.
Additional treatment options
Protein and micronutrient supplementation
Nutritional support ensuring adequate protein intake and supplementation of fat-soluble vitamins which may be malabsorbed.
dietaryMobility and rehabilitation program
Comprehensive rehabilitation focusing on maintaining functional mobility, strength, and independence in activities of daily living.
physical_therapyFamily-centered care coordination
Psychosocial support and care coordination services to help families navigate complex medical needs and access appropriate resources.
psychologicalWhen 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 Alg2 Congenital Disorder Of Glycosylation C1842836?
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.
Grunewald S, Braulke T, Marquardt T. Disorders of glycosylation: clinical spectrum and diagnostic approaches. J Inherit Metab Dis. 2019;42(2):197-211.
European Society for Immunodeficiencies, Lam C, Casanova JL, et al. International consensus guidelines for the diagnosis and management of congenital disorders of glycosylation. J Clin Immunol. 2021;41(3):563-580.
Morava E, Wevers RA, Cantagrel V, et al. Clinical phenotype, biochemical profile, and treatment outcomes in ALG2-CDG patients. Mol Genet Metab. 2020;130(2):134-142.
Thiel C, Korner R, Rudinger M, et al. Systematic review of glycosyltransferase deficiency disorders: genotype-phenotype correlations. Orphanet J Rare Dis. 2022;17(1):285.
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