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| Disease found: | Mucopolysaccharidosis Type I |
| Current as of: | October 8, 2024 |
| 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. [more info] |
| Signs and Symptoms: | Variable onset from early infancy to childhood, coarse facial features, developmental delay, skeletal abnormalities with joint stiffening, corneal clouding, hepatosplenomegaly, valvular heart disease. Disease is progressive. [more info] |
| Diagnosis: | Elevated urine glycosaminoglycans is suggestive; gene panel or IDUA enzyme activity assay is required for diagnosis. |
| Treatment: | Enzyme replacement therapy with laronidase (Aldurazyme) can improve non-CNS symptoms; is the standard treatment. Severe disease may require consideration of hematopoietic stem cell transplant. [more info] |
| Clinical Management: | 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. [more info] |
| Referral: | Care typically requires an extensive multidisciplinary team; 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: | Several domestic and international studies are recruiting. |