Disorder Of O Mannosylglycan Synthesis C5681045
A rare genetic disorder affecting how sugar molecules are attached to proteins, impacting multiple body systems. It presents from birth. Treatment focuses on supportive care and managing specific 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.
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurological)Coagulation factor deficiency
(hematologic)Cataracts
(ophthalmologic)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.
Comprehensive multidisciplinary monitoring
Regular surveillance by neurology, cardiology, and developmental specialists to detect and manage complications such as seizures, cardiomyopathy, and developmental delays associated with O-mannosylglycan deficiency.
Early intervention physical therapy
Structured physical therapy program focusing on motor development, muscle tone management, and prevention of contractures to maximize functional mobility and independence.
Additional treatment options
Symptomatic seizure management
Anticonvulsant therapy tailored to seizure type and frequency, with regular review of efficacy and side effects in consultation with neurology specialists.
medicationNutritional support and feeding assistance
Assessment and management of feeding difficulties, including modified food textures, feeding tubes if required, and monitoring of nutritional status to prevent failure to thrive.
dietaryCorrective orthopedic procedures
Surgical intervention for severe skeletal abnormalities such as contractures or hip dysplasia, typically performed after conservative measures have failed.
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 Disorder Of O Mannosylglycan Synthesis C5681045?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Disorder Of O Mannosylglycan Synthesis C5681045. 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 20, 2026. · Read our editorial policy