Hurler syndrome

Last revised by Mostafa Elfeky on 1 Jan 2024

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I).

The estimated incidence is ~1:100,000.

It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the first decade of life, often from cardiac disease.

It carries an autosomal recessive inheritance.

It is named after Gertrud Hurler (1889-1965), a German pediatrician 1.

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