Mucopolysaccharidosis Type 1 C0023786
MPS Type 1 is a genetic disorder where the body lacks an enzyme to break down certain sugars, causing them to build up in cells. It affects multiple organs and can cause developmental delays and skeletal problems. Enzyme replacement and supportive care are treatment options.
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.
Coarse facial features
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal dysplasia
(metabolic)Corneal clouding
(metabolic)Organomegaly
(metabolic)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
Laronidase Enzyme Replacement Therapy
Laronidase is a recombinant form of alpha-L-iduronidase administered via intravenous infusion. This therapy helps break down accumulated glycosaminoglycans in lysosomes, reducing cellular damage and improving cellular function across multiple organ systems.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Allogeneic stem cell transplantation from a compatible donor provides living cells capable of producing the deficient enzyme. Early intervention before significant organ damage occurs yields the best outcomes for severe MPS-1 presentations.
Additional treatment options
Multidisciplinary Surveillance Program
Regular comprehensive monitoring of cardiac, respiratory, neurological, and musculoskeletal systems through specialized clinics. Includes periodic echocardiograms, pulmonary function tests, hearing assessments, and developmental evaluations.
monitoringCorrective Orthopedic Interventions
Surgical management of skeletal abnormalities including carpal tunnel release, spinal decompression, and hip reconstruction. Procedures address mechanical complications from dysostosis multiplex.
surgicalAdaptive Physical Rehabilitation
Structured physical therapy program focusing on joint mobility, strength maintenance, and functional movement. Includes positioning strategies, stretching protocols, and aquatic therapy when appropriate.
physical_therapyWhen 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 Mucopolysaccharidosis Type 1 C0023786?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Mucopolysaccharidosis Type 1 C0023786. 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