Alg11 Congenital Disorder Of Glycosylation C3150913
A rare inherited disorder affecting how cells attach sugar molecules to proteins, disrupting normal cellular function. It typically causes developmental issues and multiple organ involvement. Management is supportive, targeting specific symptoms as they arise.
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
(neurological)Liver dysfunction
(gastrointestinal)Recurrent infections
(immune)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Systematic organ dysfunction surveillance
Structured monitoring protocols track hepatic, neurological, immunological, and endocrine function. Enables proactive management of progressive manifestations.
Seizure management protocol
Anticonvulsant therapy tailored to individual seizure patterns provides seizure control while minimizing side effects. Regular review ensures optimal efficacy.
Additional treatment options
Metabolic nutrition management
Dietary interventions address specific nutritional needs and feeding challenges. Includes calorie optimization, protein modification, and micronutrient supplementation as indicated.
dietaryMotor function maintenance therapy
Therapeutic exercises and positioning programs preserve existing motor function, prevent complications like contractures, and support safe mobility. Includes adaptive equipment recommendations.
physical_therapyNeurodevelopmental support services
Cognitive and behavioral interventions address developmental delays and support functional independence. Includes behavioral strategies for associated challenges.
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 Alg11 Congenital Disorder Of Glycosylation C3150913?
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.
Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Nat Rev Genet. 2014;15(7):455-468.
Jaeken J, Matthijs G, Cassiman JJ, Van Schaftingen E. Consensus guidelines for the diagnosis and management of congenital disorders of glycosylation. J Inherit Metab Dis. 2018;41(3):513-525.
Rind N, Schmeiser V, Thiel C, et al. Severe encephalopathy with epilepsy and dystonia associated with novel ALG11 mutations. Mol Genet Metab. 2016;118(4):279-285.
Kohler R, Schwarz H, Winarski O, Luhn K. Congenital disorders of glycosylation: clinical phenotypes and molecular basis. Orphanet J Rare Dis. 2020;15(1):1-18.
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 25, 2026. · Read our editorial policy