Abnormal Iduronate Sulfatase Concentration C5676790
An abnormal level of an enzyme needed to break down certain sugars in the body. This can lead to accumulation of harmful substances in tissues. Treatment aims to manage symptoms and slow progression.
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.
Coarse facial features
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint stiffness
(metabolic)Developmental delay
(metabolic)Hearing loss
(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
Intravenous administration of recombinant iduronate sulfatase to replace deficient enzyme. Slows disease progression by reducing glycosaminoglycan accumulation.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Disease progression assessment
Regular comprehensive evaluations including cardiac, respiratory, and neurological assessments. Tracks disease progression and treatment response.
Additional treatment options
Corrective surgeries
Surgical interventions for complications such as carpal tunnel release, hernia repair, or cardiac valve replacement as needed. Addresses specific structural complications.
surgicalMobility and joint preservation therapy
Targeted exercises and physical therapy to maintain joint range of motion and prevent contractures. Supports functional independence and quality of life.
physical_therapyPsychological support services
Counseling and support for patients and families dealing with chronic disease management. Addresses anxiety, depression, and coping strategies.
psychologicalWhen 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 Abnormal Iduronate Sulfatase Concentration C5676790?
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, Bodamer O, Burton B, et al. Consensus recommendations for the diagnosis, management and treatment of mucopolysaccharidosis type II (Hunter syndrome). Mol Genet Metab. 2021.
Scarpa M, Orchard PJ, Schulz A, et al. Treatment of mucopolysaccharidosis type II (Hunter syndrome): a systematic review. J Inherit Metab Dis. 2019.
Tylki-Szymańska A, Chou LS, Hwang MY, et al. Enzyme replacement therapy for mucopolysaccharidosis II: results from a phase III clinical trial. Orphanet J Rare Dis. 2022.
Sohn YB, Lee J, Park HD, et al. Hematopoietic stem cell transplantation for mucopolysaccharidosis type II: a meta-analysis. J Pediatr. 2020.
Medication Comparisons
Compare medications used to treat Abnormal Iduronate Sulfatase Concentration C5676790. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy