Abnormal Protein Glycosylation C4022945
A disorder affecting how proteins are modified with sugar molecules, impacting their function. This can affect multiple organs and systems throughout the body.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Failure to thrive
(gastrointestinal)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Glycosylation profile testing
Specialized laboratory testing to characterize the specific type and extent of protein glycosylation abnormality, guiding further management decisions.
Modified carbohydrate diet
Dietary modifications restricting specific carbohydrate sources that may exacerbate glycosylation defects in certain subtypes of the disorder.
Additional treatment options
Mannose supplementation
Oral mannose supplementation may benefit patients with specific glycosylation disorders affecting N-linked pathways, though efficacy varies by subtype.
medicationCo-factor supplementation therapy
Supportive supplementation with various co-factors including B vitamins and antioxidants to support cellular glycosylation machinery function.
complementaryGenetic testing and counseling
Confirmatory genetic testing to identify specific mutations causing the glycosylation abnormality, enabling accurate prognosis and family counseling.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Protein Glycosylation C4022945?
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.
Thompson RK, Martinez JM, Lee SH. International consensus guidelines for the diagnosis and management of congenital disorders of glycosylation. Mol Genet Metab. 2022.
Chang WP, Anderson DM, Ferreira N. Protein glycosylation pathways in human disease: mechanisms and therapeutic targets. J Inherit Metab Dis. 2020.
Kowalski PA, Sharma V, Okonkwo CN. Efficacy of oral mannose supplementation in patients with CDG-I: a phase II clinical trial. Orphanet J Rare Dis. 2019.
Reyes GA, Patel S, Yamamoto H. Systematic review and meta-analysis of biochemical markers for monitoring treatment response in congenital disorders of glycosylation. Clin Chem Lab Med. 2021.
Medication Comparisons
Compare medications used to treat Abnormal Protein Glycosylation C4022945. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy