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Clinical Features of Mucopolysaccharidosis Type I (MPS I, Hurler, Hurler-Scheie, Scheie Syndromes)

Specialty:

Genetics

Objective:

ICD-10:

Description:

Deficiency in alpha-L-iduronidase results in abnormal lysososomal storage. There is an accumulation of mucopolysaccharides in various organs, causing organomegaly and eventual organ dysfunction. Severe reduction in the enzyme results in Hurler syndrome, while less severe deficiencies results in the Hurler-Scheie and Scheie syndromes.

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