- What is Mucopolysaccharidosis type I (MPSI) and what causes it?
- What are the symptoms of MSP I?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- If my first child has severe MPS I, will my other affected children be similarly affected?
- Is there a cure for MPS I?
- Will my child with MPS I be able to have children?
- Can the enzyme levels predict severity?
- What research or clinical trials are available?
- hernias, inguinal and umbilical
- facial features that become coarse over time
- frequent upper airway infections with ear infections
- corneal clouding
- cardiac involvement, valve disease
- progressive skeletal dysplasia (dysostosis multiplex)
- growth delay
- profound neurological involvement (in the severe form only)
- Confirming deficiency of α-L-iduronidase in peripheral blood leukocytes or cultured fibroblasts.
- Molecular genetic testing for mutations in IDUA, the gene that encodes α-L-iduronidase, can be used for confirmatory diagnostic testing.
National MPS Society
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.
Hide & Seek Foundation
Hide & Seek is a community of people dedicated to finding treatments and cures for a devastating genetic condition called Lysosomal Disease.
The LysoLife Community connects families, friends, and caregivers for support and inspiration. The LysoLife Community is sponsored by the Hide & Seek Foundation in partnership with Inspire.
Mucopolysaccharidosis Syndromes Resources (KUMC)
A list of international resources for patients/families; from the University of Kansas Medical Center, Medical Genetics – Genetics and Rare Conditions Site.
Angels Hands Foundation
A non-profit organization to improve the quality of life for individuals living with rare diseases by providing family support and assistance, medical equipment and services, support local medical and national organizations.
Mucopolysaccharidosis Type I (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
Mucopolysaccharidoses Fact Sheet
The National Institute of Neurological Disorders and Strokes (NINDS) provides a fact sheet addressing signs and symptoms, risks, types, treatments, research, and resources.
Hurler Syndrome (MedlinePlus Encyclopedia)
Brief overview and links, from the National Library of Medicine and National Institutes of Health.
Genzyme Therapeutics commercial website for patients and caregivers offering information about MPS I, treatment, clinical trials, support groups, and resources. Discusses the use of Aldurazyme (laronidase) enzyme replacement therapy manufactured by Genzyme.
About Lysosomal Storage Diseases
From a non-profit organization in New Zealand that offers shared information and support for patients and families. Includes family stories, newsletters, and research updates.
Starlight Starbright Children's Foundation
A non-profit organization dedicated to helping seriously ill children and their families. Programs include entertainment while hospitalized, getaways for families, patient education, and online chat rooms where kids can communicate with other seriously ill children.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
A Guide to Understanding MPS I (National MPS Society)
Booklet for parents about MPS I and related physical and emotional issues.
MPS Fact Sheets (National MPS Society)
More than 25 fact sheets about mucopolysaccharidoses and related diseases for patients, families, and providers; topics include cardiac problems, caregiver support, family coping strategies, melatonin, transplants, pamidronate, tube feedings, stem cell transplants, and more.
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MPS I (clinicaltrials.gov)
A list of ongoing clinical studies for which patients may be eligible. The list includes registered studies that are closed and may have links to their published outcomes.
MPS I Registry
An ongoing, observational database that tracks natural history and outcomes of patients with MPS I. The Registry was initiated worldwide in April 2003 as an international observational program sponsored by BioMarin/Genzyme LLC and administered by Genzyme Corporation. Registration is voluntary, free, and confidential.