📋Overview
Hurler syndrome is a legacy term for the severe form of mucopolysaccharidosis type I (MPS I), a rare inherited lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase. This enzyme deficiency leads to accumulation of glycosaminoglycans (GAGs) in various tissues, causing progressive multisystem damage. The modern preferred term is MPS I, with Hurler syndrome representing the most severe phenotype.
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Medical codes (for reference)
UMLS CUI: C0086795ICD-10-CM
E76.01
MeSH
D008059
SNOMED CT (US)
65327002
Codes are provided for reference and interoperability. They are not a diagnosis.
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