Disease

Mucopolysaccharidosis I1

Gene

IDUA

Inheritance AR
Current Treatments laronidase enzyme replacement, Bone marrow transplantation Hematopoietic Stem Cell Transplantation (HSCT)
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test Alpha-L-iduronidase enzyme activity in leukocytes1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC006
Disease Frequency (per 100,000) 0.553
Genes Included in Disease Frequency IDUA
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Mucopolysaccharidosis+I&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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