Congenital Disorder Of Glycosylation Type 2v C5561971
A rare inherited disorder affecting how cells add sugar molecules to proteins, part of the CDG-II group. It causes developmental delays and may affect multiple organs. Treatment involves supportive care and symptom management.
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
Hypoglycemia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Dysmorphic facial features
(metabolic)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.
Modified Carbohydrate Diet
Specialized dietary approach restricting simple carbohydrates and focusing on complex carbs with consistent glucose monitoring. This helps manage the metabolic abnormalities seen in glycosylation disorders by reducing metabolic stress on affected pathways.
Comprehensive Laboratory Monitoring
Regular blood tests to track liver function, coagulation factors, and glycosylation markers. Imaging studies to assess organ involvement and neurodevelopmental progress.
Additional treatment options
Nutritional Supplementation
Supportive supplementation with vitamins and minerals as guided by laboratory findings. May include medium-chain triglycerides if fat absorption is compromised.
complementaryDevelopmental Support Services
Early intervention programs providing physical, occupational, and speech therapy as needed. Structured routines help maximize developmental potential.
lifestyleFamily Counseling and Support
Psychological support for families dealing with chronic rare disease management. Genetic counseling services for family planning and understanding inheritance patterns.
psychologicalWhen 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 2v C5561971?
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, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal unexpected pathways. Nat Rev Genet. 2014;15(7):497-516.
Jaeken J, Matthijs G. Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet. 2017;18:253-274.
Altassan R, Peeters R, Hennet T, Raza S, Jaeken J. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG). J Inherit Metab Dis. 2021;44(2):344-361.
Lam C, Krasnewich D, Muenke M, et al. Clinical spectrum and molecular diagnosis of congenital disorders of glycosylation type II. Mol Genet Metab. 2018;124(3):192-205.
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.
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 27, 2026. · Read our editorial policy