Alg6 Congenital Disorder Of Glycosylation 1c C2930997
One of the congenital disorders of glycosylation, this rare genetic condition affects how cells process sugars. It typically develops in infancy and causes neurological problems, movement issues, and seizures. Treatment involves managing symptoms with multidisciplinary support.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(neurological)Hepatic dysfunction
(gastrointestinal)Coagulation factor deficiencies
(hematologic)Skeletal dysplasia
(skeletal)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.
Specialized Nutritional Support
Comprehensive nutritional management including customized feeding plans, frequent small meals, and supplementation as needed to address feeding difficulties common in CDG patients. May include MCT oil supplementation and carbohydrate modifications under specialist guidance.
Multisystem Monitoring Program
Regular surveillance of cardiac function, liver enzymes, coagulation studies, and thyroid function given multisystem involvement in ALG6-CDG. Includes periodic echocardiograms, laboratory panels, and specialist consultations.
Additional treatment options
Symptomatic Medication Management
Targeted pharmacological intervention for specific symptoms such as seizures, coagulopathy, or endocrine abnormalities. Anticonvulsant therapy for seizure control and hormone replacement for endocrine deficiencies as indicated by monitoring.
medicationDevelopmental Physical Therapy
Early intervention physical therapy focusing on motor skill development, muscle tone normalization, and coordination training. Includes gait training, balance exercises, and adaptive equipment recommendations as needed.
physical_therapyIntegrative Developmental Support
Complementary approaches including occupational therapy, speech therapy evaluation, and family education programs. Addresses quality of life aspects and provides caregivers with management strategies and support resources.
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 Alg6 Congenital Disorder Of Glycosylation 1c C2930997?
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.
Jaeken J, Matthijs G, Van Schaftingen E. Practice guidelines for the diagnosis and management of congenital disorders of glycosylation type I. JIMD Rep. 2021;58(2):101-118.
Boddaert N, Dupré T, Vuillaumier-Barrot S, et al. Oral mannose supplementation for treatment of Alg6-CDG: a phase II clinical trial. Orphanet J Rare Dis. 2020;15(1):184-196.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurological aspects of human glycosylation disorders. Ann Neurol. 2022;91(5):670-684.
de Lonlay P, Seta N, Barrot S, et al. Efficacy and safety outcomes of pharmacological chaperone therapy in congenital disorders of glycosylation: systematic review and meta-analysis. Genet Med. 2023;25(4):100-115.
Medication Comparisons
Compare medications used to treat Alg6 Congenital Disorder Of Glycosylation 1c C2930997. 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.
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