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Mucopolysaccharidosis Type I - FAQ

For Professionals

How often should my patient have screening for the various complications that can arise in MPS I?

Please see [Muenzer: 2009] and Recommended Schedule of Assessments for MPS I Patients (MPS I Registry) (PDF Document 175 KB) .

From Parents/Families

Are my other children at risk for having MPS I?

Yes. Since this condition is inherited in a recessive manner, other children have a 25% chance of also inherited MPS I. Other family members are at an increased risk of having children with MPS I (please see MPS I: Genetics).

Will my child with MPS I be able to have children?

Individuals with the attenuated forms of MPS I and do not appear to have problems with fertility, therefore, they should be able to have children. Women with MPS I should be followed closely by a maternal-fetal medicine specialist given the cardiac, respiratory, and musculoskeletal complications involved in the condition. Individuals with severe MPS I do not usually reach reproductive age if untreated.

What research or clinical trials are available?

Research opportunities can be found on the National MPS Society website: National MPS Society. This site provides information about the disorder, research, support for families, fund raising, and efforts to increase public awareness about MPS and related disorders. Allows users to contact and communicate directly with other parents/patients. Clinical studies can also be found at Current studies of MPS I (ClinicalTrials.gov)

Can the enzyme levels predict severity?

No. Most individuals with MPS I, regardless of their clinical diagnosis of severe or attenuated MPS I, will have little to no enzyme activity when assayed, therefore it can not be used to predict phenotype.

If my first child has severe MPS I, will my other affected children be similarly affected?

Yes. If one child has severe phenotype, then all other affected children will be severely affected. If one sibling has attenuated MPS I, then we would predict that other siblings would also have attenuated MPS I.

Is there a cure for MPS I?

While there is no treatment that is completely curative, the two available therapies, HSCT and ERT, can increase life expectancy, improve quality of life, and treat some of the symptoms associated with MPS I.

Authors

Author: Pilar L. Magoulas MS, CGC, 2/2009
Content Last Updated: 2/2009

Page Bibliography

Muenzer J, Wraith JE, Clarke LA.
Mucopolysaccharidosis I: management and treatment guidelines.
Pediatrics. 2009;123(1):19-29. PubMed abstract