Mucopolysaccharidosis Type II

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Lysosomal storage disease caused by X-linked mutation in the iduronate 2-sulfatase (IDS) gene; impairs ability to break down glycosaminoglycans, which then accumulate in lysosomes.

Common symptoms

Early childhood onset (2-4 years) with cognitive deteriorationaggressioncoarsening of facial featureshoarse voice and swallowing difficultyairway obstructionvalvular disease.

WHEN TO SUSPECT

HOW TO TEST

TREATMENT

  • Recommendation 1

    Enzyme replacement therapy with idursulfase (Elaprase) can improve non-CNS symptoms

  • Recommendation 2

    is the standard treatment. Unlike MPS-I, stem cell transplant is less promising. CPAP ventilation and tonsillectomy may be needed to assist breathing.

PRIMARY CARE

  • Recommendation 1

    Annual visits to monitor musculoskeletal, developmental, cardiac, and pulmonary changes. Orthopedic surgery and valve replacement may be needed

  • Recommendation 2

    anesthesia requires special considerations if the patient has a compromised airway.

FURTHER SUPPORT

  • Recommendation 1

    Care typically requires an extensive multidisciplinary team

  • Recommendation 2

    large academic children's hospitals often have a Lysosomal Storage Disease program. Families can access support from the National MPS Society.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    Several domestic and international studies are recruiting.

Sources

No data available

Interested in learning more about Mucopolysaccharidosis Type II?

Follow to receive regular updates to the latest research development on this disease via email newsletter.