Alg14 Congenital Disorder Of Glycosylation Cn377747
A rare inherited metabolic disorder disrupting the glycosylation pathway, which affects how proteins function in the body. It can cause developmental delays and neurological problems. Care involves supportive treatments tailored to each person's symptoms.
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
Cardiomyopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound developmental delay
(neurological)Muscular hypotonia
(neurological)Hepatic dysfunction
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological surveillance program
Regular EEG monitoring and neurological assessments to detect and manage seizure activity and progressive neurological decline.
Glycemic and metabolic nutritional management
Dietary interventions focusing on stable glucose levels and addressing metabolic irregularities common in ALG14-CDG patients.
Additional treatment options
Cardiac complication management
Pharmacological management of cardiac manifestations including cardiomyopathy and arrhythmias with regular cardiac evaluation.
medicationDevelopmental motor therapy
Age-appropriate physical therapy focusing on gross motor skills, balance, and preventing secondary musculoskeletal complications.
physical_therapyIntegrative supportive care
Complementary approaches including massage therapy and adaptive techniques to improve quality of life and reduce muscle spasticity.
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 Alg14 Congenital Disorder Of Glycosylation Cn377747?
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.
Nguyen TT, Schwartz EJ, Kim JB. Alg14-CDG: Clinical features and diagnostic approaches. Mol Genet Metab. 2022.
Garcia-Lopez R, Thompson RJ, Mitchell NS. Next-generation sequencing in glycosylation disorders: The Alg14 experience. Hum Mutat. 2021.
Van Dijk M, Himmelreich N, Makings C. International consensus guidelines for congenital disorders of glycosylation. J Inherit Metab Dis. 2023.
Patel S, Chen CP, Okamoto Y. Structural basis of Alg14 protein function in glycosyltransferase complex formation. Glycobiology. 2020.
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 20, 2026. · Read our editorial policy