Mannose 6 Phosphate Receptor Recognition Defect Lebanese Type C1835134
An extremely rare genetic disorder where proteins cannot reach the correct part of the cell for breakdown. Leads to severe developmental issues. Treatment is supportive only.
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
Intellectual disability
(neurological)Skeletal dysplasia
(musculoskeletal)Coarse facial features
(dysmorphic)Recurrent infections
(immunologic)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
Enzyme replacement therapy
Exogenous enzyme replacement to compensate for deficient lysosomal enzyme targeting. This addresses the core pathology by providing functional enzymes that can be taken up by cells.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Physical and occupational therapy
Targeted exercises and adaptive techniques to maintain joint mobility, prevent contractures, and support functional independence as disease progresses.
physical_therapyRegular comprehensive monitoring
Periodic assessment of cardiac function, respiratory capacity, skeletal development, and neurological status to anticipate and address complications early.
monitoringPsychosocial support services
Counseling and family support to address the emotional and social challenges associated with managing a severe genetic disorder across the lifespan.
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 Mannose 6 Phosphate Receptor Recognition Defect Lebanese Type C1835134?
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 27, 2026. · Read our editorial policy