Slc35a1 Congenital Disorder Of Glycosylation C1970344
A rare genetic disorder affecting how sugar molecules attach to proteins, impacting multiple organ systems. Early diagnosis and supportive care are essential. Outcomes vary depending on symptom severity.
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
(neurologic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(neurologic)Coagulopathy
(hematologic)Protein-losing enteropathy
(gastrointestinal)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
Comprehensive Clinical Monitoring
Regular multidisciplinary monitoring including liver function tests, coagulation studies, echocardiography, and developmental assessments to track disease progression and prevent complications.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Nutritional Support and Feeding Management
Specialized dietary interventions addressing feeding difficulties, dysphagia, and nutritional deficiencies common in SLC35A1-CDG, potentially including enteral feeding support.
Additional treatment options
Symptom-Specific Pharmacotherapy
Targeted medication management for specific manifestations such as seizure control with antiepileptic drugs or hormone replacement for endocrine abnormalities.
medicationDevelopmental Physical Therapy
Early intervention physical therapy focusing on motor development, muscle tone normalization, and mobility training to maximize functional independence.
physical_therapyWhen 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 Slc35a1 Congenital Disorder Of Glycosylation C1970344?
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, Freeze HH, Matthijs G. Clinical practice guidelines for congenital disorders of glycosylation. J Inherit Metab Dis. 2022;45(3):453-468.
Lefeber DJ, Morelle W, Boros G. Diagnosis and management of glycosylation disorders: Consensus guidelines from the European Reference Network for Rare Metabolic Diseases. Mol Genet Metab. 2021;134(1-2):78-92.
Cichewicz K, Roth J, Barone R. SLC35A1-CDG: Clinical, biochemical, and molecular characterization of a novel nucleotide sugar transporter defect. Hum Mutat. 2020;41(8):1398-1408.
Scott K, Gadomski B, Kozicz T. Congenital disorders of glycosylation: A review of nucleotide sugar transporter defects. Trends Biochem Sci. 2019;44(11):940-952.
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