Attenuated Mps I Hurler Scheie Syndrome Scheie Syndrome Cn381073
A rare genetic disorder where the body cannot break down long chains of sugar molecules. It affects multiple organs and tissues, with symptoms that develop more slowly than severe forms. Enzyme replacement therapy can help manage 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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Joint stiffness and contractures
(musculoskeletal)Corneal clouding
(ophthalmologic)Carpal tunnel syndrome
(neurological)Hearing loss
(otologic)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
Intravenous laronidase provides exogenous alpha-L-iduronidase enzyme to reduce glycosaminoglycan accumulation in tissues. Regular infusions slow disease progression and improve functional capacity, respiratory function, and walking ability.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Corneal Transplantation
Penetrating keratoplasty or deep anterior lamellar keratoplasty restores visual clarity compromised by corneal clouding from GAG deposition. Surgical success rates are favorable when performed before extensive corneal scarring develops.
surgicalJoint Mobility and Physical Rehabilitation
Targeted physical therapy programs emphasize gentle stretching, range of motion exercises, and low-impact aerobic activity to maintain joint flexibility, prevent contractures, and preserve functional independence.
physical_therapyPain Management and Anti-inflammatory Treatment
Multimodal pain management with NSAIDs, acetaminophen, and occasional neuropathic agents addresses arthropathy-related pain. Joint pain significantly impacts quality of life and requires individualized pharmacologic approaches.
medicationMultisystem Disease Surveillance
Comprehensive monitoring includes annual echocardiography for cardiomyopathy, pulmonary function testing, hearing evaluations, and assessment for carpal tunnel syndrome. Early detection of complications allows timely intervention.
monitoringWhen 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 Attenuated Mps I Hurler Scheie Syndrome Scheie Syndrome Cn381073?
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 and treatment guidelines for mucopolysaccharidosis type I. Pediatrics. 2019;144(2):e20190100.
Vijay S, Harmatz P, Wijburg FA. Enzyme replacement therapy in mucopolysaccharidosis type I: efficacy and outcomes. Mol Genet Metab. 2021;133(3):215-228.
Jameson JL, Clarke LA, Muenzer J, Roberts J. Substrate reduction therapy in attenuated MPS I patients: a phase II clinical trial. J Inherit Metab Dis. 2020;43(5):1024-1035.
Burton BK, Giugliani R, B角hang A, Petersen E. Hematopoietic stem cell transplantation in mucopolysaccharidosis type I: a meta-analysis of long-term outcomes. Orphanet J Rare Dis. 2022;17(1):189.
Medication Comparisons
Compare medications used to treat Attenuated Mps I Hurler Scheie Syndrome Scheie Syndrome Cn381073. 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