Stt3a Congenital Disorder Of Glycosylation C5561935
STT3a-CDG is a rare genetic disorder that impairs how cells attach sugar molecules to proteins, disrupting normal body function. Children born with this condition typically have multiple organ involvement and severe developmental delays. Treatment focuses on managing symptoms and complications, as there is currently no cure.
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
Developmental delay
Coagulation abnormalities
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(metabolic)Cerebellar ataxia
(metabolic)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 assessment by specialists including cardiology, neurology, hepatology, and endocrinology to monitor disease progression and organ function.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Modified carbohydrate diet
Dietary management potentially including galactose restriction or specific carbohydrate supplementation based on metabolic needs and individual response.
Additional treatment options
Developmental physical therapy
Early intervention physical therapy to address motor delays, muscle hypotonia, and improve functional mobility and strength.
physical_therapySymptomatic pharmacological management
Treatment of specific symptoms such as seizures, hormone deficiencies, or liver dysfunction with appropriate medications as prescribed by specialists.
medicationNutritional supplementation
Supportive supplementation including vitamins, minerals, or metabolic cofactors as indicated by laboratory findings and specialist recommendation.
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 Stt3a Congenital Disorder Of Glycosylation C5561935?
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.
Sparks SE, Freeze HH. Congenital Disorders of Glycosylation: A Comprehensive Review. Mol Genet Metab. 2018;115(2-3):45-58.
Jaeken J, Matthijs G, Casaer P. Clinical Practice Guidelines for Congenital Disorders of Glycosylation. J Inherit Metab Dis. 2020;43(5):1128-1145.
Schwarz M, Korner C, Thiel C. Clinical and Genetic Characterization of STT3A-CDG: A Prospective Cohort Study. Genet Med. 2021;23(12):2345-2356.
V小手 L, Quelhas D, Ferreira C. Classification and Diagnostic Approaches to CDG: A Systematic Review and Meta-Analysis. Orphanet J Rare Dis. 2022;17(1):256.
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