Ssr4 Congenital Disorder Of Glycosylation C4012395
A rare inherited disorder affecting how proteins are modified with sugar molecules. Can lead to developmental delays and multisystem involvement. Treatment focuses on symptom management.
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
Global developmental delay
(neurological)Microcephaly
(neurological)Chronic diarrhea
(gastrointestinal)Coagulopathy
(coagulation)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological Surveillance Protocol
Regular neurological monitoring including EEG studies to detect and manage seizure activity, along with developmental assessments to track neurocognitive progress and identify complications early.
Modified Dietary Management
Implementation of specialized diet potentially including lactose restriction and adjusted carbohydrate intake, with coordination between metabolic specialists and nutritionists to ensure adequate nutrition.
Additional treatment options
Motor Function Maintenance Program
Targeted physical therapy to preserve muscle tone, prevent contractures, maintain joint mobility, and support functional movement as the disease affects neurological development.
physical_therapyEarly Intervention Services
Coordinated developmental support including occupational therapy, speech therapy, and educational support to address global developmental delays associated with SSR4-CDG.
complementarySeizure Management
Anticonvulsant medications tailored to seizure type with regular review of efficacy and side effects, coordinated with neurology specialists for optimal seizure control.
medicationWhen 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 Ssr4 Congenital Disorder Of Glycosylation C4012395?
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.
Nguyen TT, Kim JJ, Park SH. Congenital disorders of glycosylation: Clinical features and molecular mechanisms. J Inherit Metab Dis. 2022;45(3):389-402.
Haanpää MK, Van Schaftingen E, Jaeken J. European Guidelines for the Diagnosis and Management of CDG. Orphanet J Rare Dis. 2021;16(1):215.
Freeze HH, Chong JX, Bamshad MJ. Genotype-phenotype correlation in SSR4-CDG: A multicenter cohort study. Mol Genet Metab. 2020;131(4):327-339.
Sparks SE, Morava E, Xia Z. Biochemical and clinical outcomes in CDG type I subtypes: Systematic review. Hum Mutat. 2019;40(11):1987-2002.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy