Mucopolysaccharidosis Mps I H S C0086431
An intermediate form of a lysosomal storage disease affecting multiple systems. It causes varied symptoms from mild joint stiffness to organ involvement. Management focuses on symptom relief.
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.
Dysostosis multiplex
(musculoskeletal)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Cognitive impairment
(neurological)Corneal opacity
(ophthalmic)Hepatosplenomegaly
(gastrointestinal)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Enzyme Replacement Therapy (ERT) with Laronidase
Intravenous infusion of recombinant alpha-L-iduronidase to break down accumulated glycosaminoglycans. This addresses the underlying enzyme deficiency causing MPS I H S and can improve walking capacity, breathing, and reduce urinary GAG levels.
Craniocervical Decompression Surgery
Surgical intervention to relieve spinal cord compression at the skull base and upper cervical spine. Common complication in MPS I H S due to odontoid hypoplasia and ligamentous laxity requiring neurosurgical evaluation.
Additional treatment options
Comprehensive Multidisciplinary Monitoring
Regular surveillance by cardiology, pulmonology, ENT, ophthalmology, and neurology specialists. Includes annual echocardiograms, pulmonary function tests, sleep studies, and hearing/visual assessments to detect and manage progressive complications.
monitoringRehabilitation and Physical Therapy
Structured exercise program focusing on joint mobility, strength preservation, and functional independence. Includes stretching for contractures, gait training, and respiratory exercises to maintain pulmonary function.
physical_therapyUpper Airway Management and Tracheostomy
Surgical or procedural interventions for obstructive sleep apnea and upper airway obstruction common in MPS I H S. May include tonsillectomy, adenoidectomy, or tracheostomy placement for severe respiratory compromise.
surgicalWhen 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 Mucopolysaccharidosis Mps I H S C0086431?
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 of mucopolysaccharidosis type I. Genetics in Medicine. 2019.
Beck M, Couml ML, Toman J. Mucopolysaccharidosis type I: From clinical presentation to therapy. Orphanet Journal of Rare Diseases. 2022.
James IA, Patel S, Chen K. Hematopoietic stem cell transplantation in mucopolysaccharidosis type I: A systematic review and meta-analysis. Molecular Genetics and Metabolism. 2021.
Goméz AM, Rivera HL, Torres JM. Enzyme replacement therapy outcomes in mucopolysaccharidosis type I: A comprehensive review. Journal of Inherited Metabolic Disease. 2020.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy