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Enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration [MISCELLANEOUS] Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0001) [MOLECULAR BASIS] Treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age [MISCELLANEOUS] MPS1 types are distinguished clinically by age of onset and progression or by mutation(s) [MISCELLANEOUS] Alpha-L-iduronidase activity is <1% for all forms of MPS1 [MISCELLANEOUS]
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