Srd5a3 Congenital Disorder Of Glycosylation C4317224
A rare genetic metabolic disorder disrupting how cells attach sugar molecules to proteins. Causes developmental delays, neurological issues, and other systemic features. Care is supportive.
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.
Cerebellar hypoplasia
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurological)Optic nerve atrophy
(ophthalmological)Ichthyosis
(integumentary)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized Nutritional Support
Individualized dietary interventions including potential galactose supplementation and lactose restriction, with close monitoring of growth parameters and nutritional status to optimize metabolic function.
Multi-Organ Surveillance Program
Comprehensive monitoring of liver function, neurological development, ophthalmological status, and other affected organ systems through regular specialist assessments and diagnostic testing.
Additional treatment options
Developmental Physical Therapy
Early intervention physical therapy focusing on motor development, muscle strength, and functional mobility to maximize physical capabilities and prevent secondary complications.
physical_therapyOccupational and Speech Therapy
Supportive therapies addressing fine motor skills, activities of daily living, and speech or feeding difficulties that commonly accompany congenital disorders of glycosylation.
complementaryGenetic Counseling Services
Comprehensive genetic counseling for affected individuals and family members including discussion of inheritance patterns, recurrence risks, and family planning options.
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 Srd5a3 Congenital Disorder Of Glycosylation C4317224?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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