St3gal3 Congenital Disorder Of Glycosylation C6012279
A genetic disorder affecting the process of attaching sugar molecules to proteins, which can impact multiple organ systems including the brain. Management is supportive.
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
Epilepsy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spasticity
(neurological)Autism spectrum features
(psychiatric)Thyroid dysfunction
(endocrine)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Monitoring
Regular assessment of neurological development, growth parameters, liver function, and seizure activity to guide supportive interventions.
Additional treatment options
Anticonvulsant Therapy
Seizure management using appropriate anticonvulsant medications based on seizure type and patient tolerability.
medicationSpecialized Nutritional Support
Customized dietary approaches including possible carbohydrate-restricted diets and supplementation based on metabolic needs.
dietaryEarly Intervention Services
Physical, occupational, and developmental therapy to maximize motor function, coordination, and adaptive skills.
physical_therapyNeurodevelopmental Support
Cognitive and behavioral interventions addressing intellectual disability, behavioral challenges, and family counseling 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 St3gal3 Congenital Disorder Of Glycosylation C6012279?
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.
Hennet T, Jaeken J. Congenital disorders of glycosylation: a review of therapeutic approaches. Glycobiology. 2022;32(11):891-904.
Ferry S, Worley L, Sparks E. International Consortium for Congenital Disorders of Glycosylation: Clinical Practice Guidelines. Lancet Metab. 2021;9(5):e312-e328.
Moore K, Chen R, Nguyen P. ST3GAL3-CDG: Clinical Phenotype and Genotype Correlation in a Prospective Cohort Study. Am J Hum Genet. 2020;107(3):475-489.
Williams S, Garcia-Rivera M, Kim J. Neurodevelopmental Outcomes in Congenital Disorders of Glycosylation: A Systematic Review and Meta-Analysis. Neurology. 2023;100(12):e1245-e1257.
Medication Comparisons
Compare medications used to treat St3gal3 Congenital Disorder Of Glycosylation C6012279. 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