Overview
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
Eligibility
Inclusion Criteria:
- Confirmed diagnosis of MPS based on clinically relevant enzyme deficiency, with abnormally elevated GAG urinary excretion and/or identification of pathogenic mutations.
- Signed informed consent or parents/guardian non-opposition for deceased patients (minor or protected major)
There are no non-inclusion criteria.