The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Hurler-Scheie syndrome
Hurler-Scheie syndrome (MPS IHS)
Alternative Names: Mucopolysaccharidosis Type I-HS (MPS IH/S); Alpha-L-Iduronidase Deficiency (IDUA Deficiency)
Disease Category: Lysosomal Diseases
A rare, inherited lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). There is significant overlap of symptoms between three syndromes (Hurler, Scheie, and this combined form). Symptoms affect the heart, eyes, ears, liver, spleen, and respiratory, neurological, and musculoskeletal systems.