Disease Overview

MPS I is an inherited genetic disorder caused by a deficiency in an enzyme called alpha-L-iduronidase (IDUA). It presents phenotypically as a spectrum ranging from severe (historically Hurler Syndrome) to attenuated (historically Hurler-Scheie and Scheie Syndromes).

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Diagnosing MPS I

Screening tests, such as obtaining urinary glycosaminoglycan (uGAG), may be performed as an initial step. 

Diagnostic tests include IDUA activity analysis or molecular testing, and can be used to support an MPS I diagnosis.

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MPS I Registry

The MPS I Registry program, sponsored and administered by Sanofi Genzyme, is a worldwide database that has been tracking health-related information for people with MPS I since 2003, helping doctors and healthcare professionals to understand the disorder.

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Resources & Support

Ask a Question, Contact Us, Educational Resources, Professional Organizations and Support Groups for your Patients.

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