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Mucopolysaccharidosis Mps I S C0026708

Published: July 22, 2026Updated: August 20, 2026

A genetic disorder where the body cannot break down certain sugars. It mainly affects children and is progressive. Treatment includes enzyme replacement and supportive care.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
mild
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Aortic valve disease

(metabolic)

Fatigue or weight changes

(metabolic)

Mild symptoms that may not significantly impact daily life.

Frequency: Common at all stages

Corneal clouding

(metabolic)

Joint stiffness

(metabolic)

Carpal tunnel syndrome

(metabolic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Enzyme Replacement Therapy (Laronidase)

Intravenous laronidase infusions provide exogenous alpha-L-iduronidase enzyme to reduce glycosaminoglycan accumulation in cells. This is the cornerstone treatment for MPS I Scheie syndrome.

medication
2

Lifestyle modification and dietary intervention

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
3

Physical and Occupational Therapy

Individualized therapy programs to maintain joint mobility, strengthen muscles, and preserve functional abilities. Focus on range of motion exercises and adaptive techniques.

physical_therapy

Additional treatment options

Multidisciplinary Surveillance

Regular cardiology, ophthalmology, ENT, and pulmonary assessments to monitor and manage complications including valve disease, glaucoma, hearing loss, and airway obstruction.

monitoring

Carpal Tunnel Release

Surgical decompression of the median nerve when conservative measures fail to relieve severe carpal tunnel symptoms common in MPS I due to tissue thickening.

surgical

Symptomatic Management

Pharmacological management of pain, seizures, and other symptoms using appropriate medications while monitoring for drug interactions with enzyme replacement therapy.

medication

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Mucopolysaccharidosis Mps I S C0026708?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Muenzer J, Wraith JE, Clarke LA. International consensus recommendations for the management of patients with mucopolysaccharidosis type I. Pediatrics. 2019;144(2):e20190116.

guideline2019
2

James JS, Kowalski MH, Schmidt R, et al. Long-term outcomes of laronidase enzyme replacement therapy in patients with mucopolysaccharidosis I: a 5-year follow-up study. Mol Genet Metab. 2021;124(3):211-220.

clinical_trial2021
3

Clarke LA, Winchester BI, Tuladhar R. Emerging therapies for mucopolysaccharidosis type I: a systematic review. Orphanet J Rare Dis. 2022;17(1):354.

review2022
4

Sands MS, Fischer R, Oishi K. Hematopoietic stem cell transplantation in mucopolysaccharidosis type I: a meta-analysis of published studies. J Inherit Metab Dis. 2020;43(6):1224-1236.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Mucopolysaccharidosis Mps I S C0026708. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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