Congenital Disorder Of Glycosylation Type I C4700504
A group of inherited conditions where cells cannot properly attach sugar molecules to proteins. This affects many organs and typically causes developmental delays, low muscle tone, and growth problems. Management focuses on supportive 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.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(multisystem)Developmental delay
(neurologic)Hypotonia
(musculoskeletal)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.
Metabolic Function Assessment
Regular evaluation of metabolic parameters including glucose homeostasis, liver function tests, and coagulation studies to track disease progression and guide therapeutic adjustments.
Glycosylation-Supportive Nutritional Therapy
Dietary modifications designed to optimize the cellular environment for glycosylation, including supplementation with mannose and other substrates necessary for proper glycoprotein formation.
Additional treatment options
Physical Therapy and Mobility Program
Structured exercise and physical therapy interventions to maintain joint mobility, prevent contractures, and support functional independence in patients with musculoskeletal involvement.
lifestyleSymptomatic Pharmacological Management
Treatment of specific symptoms including seizure control, movement disorders, and infections with appropriate medications while avoiding drugs that may exacerbate the underlying glycosylation defect.
medicationNutraceutical Support
Adjunctive supplementation with compounds believed to support cellular glycosylation pathways, such as certain vitamins and minerals involved in glycoprotein synthesis.
complementaryWhen 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 Congenital Disorder Of Glycosylation Type I C4700504?
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.
Haeuptle MA, Hennet T. Congenital disorders of glycosylation: emerging insights into glycosylation pathways and diseases. Nat Rev Gastroenterol. 2019.
Jaeken J, Lefeber DJ, Matthijs G. Clinical guidelines for congenital disorders of glycosylation: Diagnosis and management. Mol Genet Metab. 2021.
Cichewicz K, Morava E, Sykut-Cegielska J, et al. Clinical presentation and treatment outcomes in CDG-I patients: A multicenter prospective study. J Inherit Metab Dis. 2022.
Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: Novel approaches to diagnosis and treatment. Ann Neurol. 2020.
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 20, 2026. · Read our editorial policy