Mucopolysaccharidosis Type I Ii Cn165613
Also called Hurler syndrome, this severe inherited disorder causes buildup of complex sugars that damage cells throughout the body. Infants appear normal but develop progressive intellectual disability, physical problems, and organ damage. Early treatment with bone marrow transplant and enzyme therapy may help.
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.
Warning signs - seek immediate care
Corneal clouding
Coarse facial features
(craniofacial)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(nervous system)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
Enzyme Replacement Therapy (ERT)
Intravenous enzyme replacement therapy using recombinant human alpha-L-iduronidase to replace the deficient enzyme in MPS I patients. Treatment helps reduce glycosaminoglycan accumulation in tissues and organs, improving endurance, pulmonary function, and walking capacity.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Early transplantation using donor stem cells to provide permanent enzyme-producing cells throughout the body. This addresses both somatic and potentially some neurological manifestations when performed in young patients with severe disease.
Additional treatment options
Surgical Interventions for Complications
Corrective surgeries addressing specific complications such as carpal tunnel release, adenotonsillectomy for airway obstruction, and hernia repair. These procedures manage mechanical problems caused by GAG accumulation in tissues.
surgicalPhysical and Occupational Therapy
Therapeutic interventions designed to maintain joint mobility, prevent contractures, and support functional independence. Therapy includes stretching, strengthening exercises, and adaptive techniques for daily activities.
physical_therapyMultidisciplinary Surveillance Program
Regular comprehensive monitoring across multiple specialties including cardiology, pulmonology, ophthalmology, and neurology. Early detection and management of complications such as valve disease, spinal cord compression, and hearing loss.
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 Mucopolysaccharidosis Type I Ii Cn165613?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy