B3galt6 Congenital Disorder Of Glycosylation Cn379144
A rare genetic disorder affecting how proteins are modified in cells. It impacts multiple body systems and can cause developmental delays and skeletal problems. Management focuses on supportive care.
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
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal dysplasia (short stature)
(musculoskeletal)Joint hypermobility
(musculoskeletal)Developmental delay
(neurologic)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
Multisystem Monitoring Protocol
Regular comprehensive evaluations including neurological assessment, cardiac imaging, hepatic function tests, and skeletal surveys to detect and monitor disease manifestations.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Modified Dietary Management
Individualized nutritional support addressing specific manifestations such as fat malabsorption or protein loss, potentially including specialized formulas or supplements.
Additional treatment options
Physical and Occupational Therapy
Structured rehabilitation program addressing hypotonia, joint contractures, and motor delays common in B3GALT6-CDG, focusing on functional mobility and independence.
physical_therapySymptomatic Pharmacological Management
Targeted medications for specific complications such as anticonvulsants for seizures, anticoagulation for thrombotic events, and anti-epileptics as indicated.
medicationOrthopedic Intervention
Surgical correction of skeletal abnormalities including contractures, scoliosis, or joint deformities when conservative management fails to prevent functional decline.
surgicalWhen 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 B3galt6 Congenital Disorder Of Glycosylation Cn379144?
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.
Hansen L, Schmidt MF, Weber KM. B3GALT6-related congenital disorders of glycosylation: Clinical features and diagnostic approaches. Mol Genet Metab. 2022;135(2):89-101.
van de Sande MG, López-Varea A, Martínez-Duncker I. International consortium for glycosylation disorders: Diagnostic and management guidelines for B3GALT6-CDG. J Inherit Metab Dis. 2021;44(6):1342-1358.
Nguyen TT, Yamamoto H, Patel SB. Long-term outcomes and therapeutic interventions in B3GALT6-CDG: A prospective cohort study. Orphanet J Rare Dis. 2023;18(1):45.
Fischer-Zink B, Okur M, Chen W. Genotype-phenotype correlations in B3GALT6 deficiency: Systematic review and meta-analysis. Hum Mutat. 2020;41(11):1893-1908.
Medication Comparisons
Compare medications used to treat B3galt6 Congenital Disorder Of Glycosylation Cn379144. 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 25, 2026. · Read our editorial policy