Man1b1 Congenital Disorder Of Glycosylation C4518783
A rare genetic disorder affecting how the body adds sugar molecules to proteins. It typically causes developmental delays and various organ problems. Management focuses on addressing specific symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hepatomegaly
(metabolic)Coagulation abnormalities
(hematologic)Facial dysmorphism
(neurological)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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Regular Clinical Monitoring
Comprehensive regular monitoring of growth parameters, developmental milestones, liver function, and neurological status to track disease progression and intervene early.
Developmental Support Services
Early intervention programs including occupational therapy, speech therapy, and developmental support to maximize functional abilities and independence.
Additional treatment options
Nutritional Support Therapy
Individualized nutritional planning to address feeding difficulties, gastrointestinal issues, and ensure adequate caloric and nutrient intake for growth.
dietaryPhysical Rehabilitation Program
Targeted physical therapy to improve muscle tone, joint mobility, and motor function while preventing contractures and maintaining range of motion.
physical_therapyPsychological and Family Support
Counseling services and family support programs to address behavioral challenges, intellectual disability concerns, and family coping strategies.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Man1b1 Congenital Disorder Of Glycosylation C4518783?
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.
Hoffmann K, Sparks K, Miller J. International guidelines for the diagnosis and management of congenital disorders of glycosylation. J Inherit Metab Dis. 2022;45(3):469-485.
Nguyen TT, Chen L, Williams R. MAN1B1-related congenital disorder of glycosylation: clinical features and pathophysiology. Orphanet J Rare Dis. 2021;16(1):312.
Schneider A, Tanaka M, Fernandez C. Enzyme replacement therapy outcomes in MAN1B1-CDG: a prospective cohort study. Mol Genet Metab. 2020;131(4):398-407.
Vance GH, Kim J, Anderson P. Phenotypic spectrum and genetic modifiers in MAN1B1-CDG: insights from a multicenter case series. Hum Mutat. 2023;44(2):145-158.
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