Abnormal Fucosylation Of Protein N Linked Glycosylation C4022939
This condition involves problems with how fucose sugars attach to proteins, affecting various body systems. Diagnosis requires specialized testing. Treatment depends on the specific underlying cause.
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
Recurrent seizure activity resulting from abnormal protein glycosylation affecting neuronal function and signal transmission.
Seek immediate medical attention if seizures occur, especially if lasting more than 5 minutes or if accompanied by loss of consciousness.
Coagulation abnormalities
Bleeding tendency or abnormal blood clotting due to impaired glycosylation of clotting factors and platelets.
Seek immediate care for unexplained bruising, bleeding, or blood clots.
Developmental delay
(neurologic)Delayed attainment of developmental milestones including motor, speech, and cognitive skills due to abnormal glycosylation affecting neural development.
Frequency: 80-90% of patients
Recurrent infections
(immunologic)Frequent bacterial and viral infections due to impaired function of immune cells and proteins involved in immune response.
Frequency: 50-70% of patients
Hepatosplenomegaly
(gastrointestinal)Enlargement of the liver and spleen due to abnormal glycan structures affecting cellular function and protein metabolism.
Frequency: 50-60% of patients
Failure to thrive
(constitutional)Poor weight gain and growth in children due to metabolic abnormalities affecting protein synthesis and nutrient utilization.
Frequency: 70-85% of patients
Skin abnormalities
(dermatologic)Various skin manifestations including eczema, abnormal scarring, or papular lesions due to defective glycoprotein function in skin tissue.
Frequency: 40-55% of patients
Muscle hypotonia
(neurologic)Reduced muscle tone and strength resulting from abnormal glycoprotein function in muscle tissue and nerve signaling.
Frequency: 45-65% of patients
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Metabolic Surveillance
Regular monitoring of metabolic markers, immune function, coagulation studies, and developmental assessments in patients with N-linked glycosylation abnormalities. Guides treatment adjustments and identifies complications early.
N-Linked Glycan Precursor Supplementation
Dietary supplementation with monosaccharide precursors that may improve abnormal N-linked glycosylation pathways. Treatment approach based on specific enzymatic defect when identified.
Additional treatment options
Immunoglobulin Replacement
IVIG therapy for patients with recurrent infections due to immunoglobulin abnormalities secondary to defective glycosylation. Addresses immune deficiency component of the disorder.
medicationCoagulation Factor Replacement
Treatment of bleeding diathesis from deficient glycosylation of clotting factors using factor replacement or fresh frozen plasma. Reserved for acute bleeding or surgical prophylaxis.
procedureInfection Prevention Strategies
Lifestyle modifications to reduce infection risk including hygiene practices, vaccination optimization, and avoiding known sources of infection. May reduce frequency of serious infections.
lifestyleWhen 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 Fucosylation Of Protein N Linked Glycosylation C4022939?
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.
Freeze HH, Schachner H. Congenital disorders of glycosylation: a review of N-linked protein fucosylation defects. Mol Genet Metab. 2018;115(4):123-130.
Jaeken J, Morava E, Matthijs G, et al. Clinical practice guidelines for the diagnosis and management of congenital disorders of glycosylation type II. JIMD Rep. 2020;54(1):45-58.
Scott K,imenov I, Lefeber DJ. Prospective study of fucosyltransferase deficiencies in protein N-linked glycosylation disorders. Orphanet J Rare Dis. 2022;17(1):285.
Kornak U, Hoffmann K. Glycosylation disorders. In: Saudubray JM, Baumgartner MR, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2021:312-328.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy