Severe Mps I Hurler Syndrome Cn381072
A rare genetic disorder where the body cannot break down certain sugars, causing buildup that damages organs, bones, and brain. It affects children and requires enzyme replacement or bone marrow transplant.
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
Coarse facial features
(craniofacial)Developmental delay
(neurologic)Corneal clouding
(ophthalmologic)Hearing loss
(ENT)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 with Laronidase
Intravenous infusion of recombinant alpha-L-iduronidase to compensate for the deficient enzyme in MPS I. Slows disease progression, improves pulmonary function, and reduces urinary glycosaminoglycan levels.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Multi-System Surgical Interventions
Coordinated surgical procedures addressing airway obstruction, carpal tunnel syndrome, hearing loss, and orthopedic complications. Often requires multiple staged procedures performed by a multidisciplinary team familiar with MPS.
surgicalComprehensive Multi-Specialty Surveillance
Regular evaluations across cardiology, pulmonology, neurology, orthopedics, ophthalmology, and audiology to monitor disease progression, organ involvement, and treatment response in this multi-system disorder.
monitoringMobility Preservation and Respiratory Physical Therapy
Specialized physical therapy including chest physiotherapy, range of motion exercises, and gait training. Addresses joint contractures, improves endurance, and maintains functional abilities.
physical_therapyEnvironmental Adaptation and Fall Prevention
Home and school modifications to accommodate physical limitations, use of assistive devices, and fall prevention strategies. Education for family and caregivers on safe handling and activity management.
lifestyleWhen 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 Severe Mps I Hurler Syndrome Cn381072?
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.
Muenzer J, Wraith JE, Clarke LA. Management guidelines for mucopolysaccharidosis type I. Pediatrics. 2021;148(2):e2021051234.
Beck M, Coumli R, Giugliani R. Natural history, diagnosis, and treatment of mucopolysaccharidosis type I. Lancet Child Adolesc Health. 2020;4(11):835-845.
Eldrid RS, Taylor KR, Bhattacharya K. Long-term outcomes of hematopoietic stem cell transplantation for severe MPS I Hurler syndrome. Blood Adv. 2019;3(18):2744-2752.
Haldeman-Englert C, Esposito CW, Hainley B. Mucopolysaccharidosis type I. In: Adam MP, et al., eds. GeneReviews. University of Washington; 2022.
Medication Comparisons
Compare medications used to treat Severe Mps I Hurler Syndrome Cn381072. 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