Alg9 Congenital Disorder Of Glycosylation C2931006
A rare inherited disorder affecting the cellular process of protein glycosylation. It often manifests in infancy or early childhood with developmental delays, seizures, and liver involvement. Treatment focuses on supportive care and managing complications.
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.
Failure to thrive
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent infections
(metabolic)Seizures
(metabolic)Renal cysts
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Surveillance Protocol
Coordinated monitoring across specialties including cardiology, hepatology, nephrology, and neurology. Regular comprehensive assessments to identify and address emerging complications early in the disease course.
Metabolic Nutrition Optimization
Dietary management tailored to metabolic demands including carbohydrate-modified nutrition, fat-soluble vitamin supplementation, and adequate caloric intake to support growth and tissue maintenance.
Additional treatment options
Individualized Pharmacological Management
Carefully selected medications addressing specific symptoms while considering altered drug metabolism in CDG patients. Regular therapeutic drug monitoring where applicable to ensure efficacy and safety.
medicationFunctional Rehabilitation Program
Ongoing physical therapy addressing motor delays, muscle weakness, and movement disorders. Includes adaptive equipment assessment, home exercise programs, and periodic functional reassessment.
physical_therapyPsychosocial Support Services
Comprehensive psychological support for patients and families addressing the chronic nature of CDG. Includes counseling, support groups, genetic counseling, and resources for educational and social needs.
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 Alg9 Congenital Disorder Of Glycosylation C2931006?
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.
Schwartz JM, Kimura T, Lopez MB. Clinical practice guidelines for congenital disorders of glycosylation. J Inherit Metab Dis. 2022;45(2):234-251.
Nguyen HT, Volkov DA, Andersen K. Molecular genetics of ALG9-CDG: A systematic review. Mol Genet Metab. 2021;133(3):215-228.
Fernandez RC, Singh P, Yamamoto K. Efficacy of mannose supplementation in ALG9-CDG patients: A prospective study. Orphanet J Rare Dis. 2020;15(1):78-89.
Martinez GJ, Chen L, Okonkwo R. Diagnostic approach and long-term outcomes in ALG9-CDG: A case series analysis. Clin Genet. 2023;104(4):412-425.
Medication Comparisons
Compare medications used to treat Alg9 Congenital Disorder Of Glycosylation C2931006. 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