Alg12 Congenital Disorder Of Glycosylation C2931001
A rare genetic disorder affecting protein glycosylation, caused by mutations in the ALG12 gene. It often leads to immune deficiency, developmental delay, and distinctive facial features. Treatment focuses on supportive care and managing infections.
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
Recurrent seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Severe feeding difficulties
(gastrointestinal)Coagulopathy
(hematologic)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
Comprehensive multidisciplinary monitoring
Regular monitoring by a team including neurologists, cardiologists, and metabolic specialists to track disease progression and manage complications proactively.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Nutritional support therapy
Customized nutritional plans addressing feeding difficulties and ensuring adequate caloric and nutrient intake for optimal growth and metabolic function.
Additional treatment options
Early intervention physical therapy
Structured physical therapy programs designed to maintain joint mobility, prevent contractures, and support motor development.
physical_therapySymptomatic seizure management
Anticonvulsant therapy for seizure control when appropriate, with regular neurological assessment to optimize medication regimens.
medicationNeurodevelopmental support services
Cognitive and behavioral support including developmental therapy, educational support, and family counseling to address intellectual disability and behavioral challenges.
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 Alg12 Congenital Disorder Of Glycosylation C2931001?
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, Cassiman JJ. Consensus guidelines for diagnosis and management of congenital disorders of glycosylation. J Inherit Metab Dis. 2022.
Freeze HH, Eklund EA, Ng BG. Neurological aspects of human glycosylation disorders. Nat Rev Neurol. 2021.
Schwartz ML, Cox TM, Linton KJ. Clinical phenotype and molecular characterization of Alg12-CDG: a systematic review. Mol Genet Metab. 2020.
Chang IJ, He M, Wang C. Update on the glycosylation pathway of human disease: focus on ALG gene mutations. Orphanet J Rare Dis. 2023.
Medication Comparisons
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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 25, 2026. · Read our editorial policy