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All Diseases > Hurler syndrome
Hurler syndrome (MPS I)
Alternative Names: Mucopolysaccharidosis Type I-H (MPS IH); 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 (this form, Scheie, and the combined form). Symptoms affect the heart, eyes, ears, liver, spleen, and respiratory, neurological, and musculoskeletal systems. Hurler syndrome is the severe form of mucopolysaccharidosis type I (MPS I).