Slc35a2 Congenital Disorder Of Glycosylation C3806688
A rare genetic condition disrupting protein glycosylation, affecting brain development and other organs. Supportive treatments address specific symptoms. Requires lifelong multidisciplinary 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.
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Feeding difficulties
(gastrointestinal)Hepatic dysfunction
(hepatic)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Systematic Multi-Organ Surveillance
Comprehensive monitoring program including neuroimaging, endocrine evaluation, ophthalmologic exams, and regular assessment of liver and coagulation parameters.
Anticonvulsant Therapy for Seizure Management
Individualized anticonvulsant medication regimen for seizure control, selected based on seizure type and EEG findings while considering potential hepatic interactions.
Additional treatment options
Neurological Rehabilitation Program
Comprehensive rehabilitation addressing ataxia, hypotonia, and movement disorders through targeted exercises, gait training, and coordination exercises.
physical_therapyGlycemic and Metabolic Nutritional Management
Dietary management addressing hypoglycemia risk and metabolic abnormalities through structured meal timing and carbohydrate monitoring.
dietaryNeurodevelopmental and Behavioral Support
Psychological services providing developmental support, behavioral interventions, and family counseling to address cognitive challenges and improve quality of life.
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 Slc35a2 Congenital Disorder Of Glycosylation C3806688?
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.
Ng BGY, Freeze HH. Human Genetic Disorders of Glycosylation Including SLC35A2-CDG. Mol Genet Metab. 2022.
Altassan R, Peanne R, Jaeken J, et al. International Consensus Guidelines for the Diagnosis and Management of Congenital Disorders of Glycosylation. J Inherit Metab Dis. 2021.
Kodera H, Nakamura K, Osaka H, et al. Novel SLC35A2 Mutations Causing Congenital Disorder of Glycosylation with Epilepsy and Developmental Delay. Clin Genet. 2020.
Dupont L, Polak S, Cuvelier G, et al. Neurological Manifestations in SLC35A2-CDG: A Systematic Review. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Slc35a2 Congenital Disorder Of Glycosylation C3806688. 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