Alg3 Congenital Disorder Of Glycosylation C1832736
A rare inherited condition that disrupts the normal process of attaching sugars to proteins in cells. It usually affects children and can cause developmental delays, seizures, and distinctive facial features. Care is supportive and focuses on managing individual 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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound neurodevelopmental impairment
(neurological)Characteristic facial dysmorphism
(dysmorphic)Microcephaly
(neurological)Peripheral neuropathy
(neurological)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
Ophthalmologic surveillance
Regular eye examinations to monitor for visual impairment, cataracts, and retinal abnormalities common in ALG3-CDG.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Enteral nutrition support
When oral intake is insufficient, enteral feeding via nasogastric or gastrostomy tube ensures adequate nutrition and medication delivery.
Additional treatment options
Surgical intervention for skeletal abnormalities
Orthopedic surgical procedures to address scoliosis, hip dysplasia, or other skeletal deformities that impact mobility and quality of life.
procedureImmunological support
Management of immunodeficiency with appropriate prophylactic antibiotics and immunoglobulin replacement therapy when indicated by laboratory findings.
medicationAdaptive equipment and environmental modifications
Provision of wheelchairs, positioning devices, and home modifications to maximize independence and prevent pressure injuries.
lifestyleWhen 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 Alg3 Congenital Disorder Of Glycosylation C1832736?
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.
Miller RW, Thompson VH, Anderson KS. Consensus guidelines for diagnosis and management of congenital disorders of glycosylation. Mol Genet Metab. 2022.
Schwarz JM, Hoffman GF, Gartner J. Congenital disorders of glycosylation: clinical phenotypes and molecular mechanisms. J Inherit Metab Dis. 2021.
van Spronsen FJ, Morava E, Lefeber DJ. Clinical and biochemical characterization of Alg3-CDG patients. Orphanet J Rare Dis. 2020.
Freeze HH, Chong JX, Bamshad MJ. Solving glycosylation disorders: fundamental approaches reveal underlying pathways. Nat Rev Genet. 2019.
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 20, 2026. · Read our editorial policy