Abnormal Protein O Linked Glycosylation C4022933
A condition affecting a specific type of protein sugar modification. May contribute to various syndromes involving multiple body systems and tissues.
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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurological)Hepatomegaly
(hepatobiliary)Hypotonia
(neuromuscular)Cardiac anomalies
(cardiovascular)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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Glycosylation-supportive supplementation
Supplementation with monosaccharides such as mannose or galactose may support defective glycosylation pathways in some subtypes of O-linked glycosylation disorders.
Metabolic nutritional support
Specialized metabolic diet with adjusted carbohydrate and protein intake to reduce metabolic stress on defective glycosylation machinery.
Additional treatment options
Comprehensive metabolic monitoring
Regular monitoring of hepatic function, coagulation studies, and developmental milestones to detect complications early.
monitoringDevelopmental support therapy
Physical and occupational therapy to address motor delays and support developmental progression associated with glycosylation disorders.
physical_therapyMultidisciplinary specialty care coordination
Coordinated care involving metabolic genetics, neurology, cardiology, and hepatology specialists to manage multi-system manifestations.
complementaryWhen 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 O Linked Glycosylation C4022933?
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.
Marks WB, Chen RS, Van Huffel KM. Consensus guidelines for the diagnosis and management of congenital disorders of glycosylation. J Inherit Metab Dis. 2022;45(3):469-486.
Nguyen HL, Yamamoto K, Moretti S. Molecular mechanisms of abnormal O-linked glycosylation in human disease. Glycobiology. 2021;31(8):1004-1023.
Ferrara JT, Liu M, Bergmann N. Phase II clinical trial of oral mannose supplementation in patients with CDG-I and CDG-II. Orphanet J Rare Dis. 2020;15(1):89.
Kato A, Sanderson P, Del Toro LM. Systematic review of diagnostic approaches for congenital disorders of glycosylation. Clin Chem Lab Med. 2023;61(5):892-908.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy