Diminished Tissue Alpha L Iduronidase Activity C5970269
An enzyme deficiency causing mucopolysaccharidosis type I (Hurler syndrome), where sugars accumulate in cells. Affects infants and young children. Treatment includes enzyme replacement and supportive care.
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
Recurrent respiratory infections
Coarse facial features
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Corneal clouding
(metabolic)Hepatosplenomegaly
(metabolic)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 infusion of recombinant alpha-l-iduronidase to compensate for the deficient enzyme activity. This helps reduce glycosaminoglycan accumulation in tissues and organs.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic stem cell transplantation
Transplantation of donor stem cells to provide permanent enzyme-producing cells. Most effective when performed early in life before significant organ damage occurs.
Additional treatment options
Comprehensive physical therapy program
Individualized exercise and mobility program to maintain joint range of motion, strength, and functional independence. Includes stretching, strengthening, and adaptive techniques.
physical_therapyMultisystem monitoring protocol
Regular assessment of cardiac function (echocardiograms, ECGs), respiratory status, hearing, vision, and neurological development to detect and manage complications early.
monitoringAirway and sleep studies
Polysomnography and airway evaluation to assess for obstructive sleep apnea and upper airway obstruction common in MPS I patients, with consideration for tonsillectomy or CPAP therapy.
procedureWhen 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 Diminished Tissue Alpha L Iduronidase Activity C5970269?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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.
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