Mucopolysaccharidosis Type I

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 autosomal recessive mutation in the alpha-L-iduronidase (IDUA) gene; impairs ability to break down glycosaminoglycans, which then accumulate in lysosomes.

Common symptoms

Variable onset from early infancy to childhoodcoarse facial featuresdevelopmental delayskeletal abnormalities with joint stiffeningcorneal cloudinghepatosplenomegalyvalvular heart disease. Disease is progressive.

WHEN TO SUSPECT

HOW TO TEST

TREATMENT

  • Recommendation 1

    Enzyme replacement therapy with laronidase (Aldurazyme) can improve non-CNS symptoms

  • Recommendation 2

    is the standard treatment. Severe disease may require consideration of hematopoietic stem cell transplant.

PRIMARY CARE

  • Recommendation 1

    Annual assessments to monitor for progressive skeletal, ophthalmic, cardiac, neurodevelopmental changes. Surgery may be needed to correct orthopedic abnormalities. Eye shades recommended to help with corneal clouding. Valve replacements may become necessary.

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

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