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Mucopolysaccharidosis Type I - Medical Condition Information

Mucopolysaccharidosis Type I

Hurler SyndromeMPS I
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📋Overview

Mucopolysaccharidosis Type I (MPS I) is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase. This leads to accumulation of glycosaminoglycans (GAGs) in various tissues, causing progressive multi-systemic symptoms. MPS I encompasses a spectrum of severity, historically classified into Hurler syndrome (severe), Hurler-Scheie syndrome (intermediate), and Scheie syndrome (mild), but now recognized as a continuous range rather than distinct subtypes.

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Medical codes (for reference)

UMLS CUI: C0023786
ICD-10-CM
E76.0
MeSH
D008059
SNOMED CT (US)
75610003

Codes are provided for reference and interoperability. They are not a diagnosis.

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