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Mucopolysaccharidosis Type I - Services & Other Resources
Information & Support
For Parents and Patients
About Lysosomal Storage Diseases
From a nonprofit organization in New Zealand that offers shared information and support for patients and families. Includes
family stories, newsletters and research updates.
Hurler syndrome (MedlinePlus Encyclopedia)
Brief overview and links, from the National Library of Medicine and National Institutes of Health.
MPS I
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.
Mucopolysaccharidoses Fact Sheet
The National Institute of Neurological Disorders and Strokes (NINDS) provides a fact sheet addresing signs and symptoms, risks,
types, treatments, research and resources.
Mucopolysaccharidosis Type I (Genetics Home Reference)
Excellent overview of MPS I for families/patients, from Genetics Home Reference, a service of the National Library of Medicine.
Includes links for more consumer-level information and support.
Starlight Starbright Children's Foundation
A non-profit organization dedicated to helping seriously ill children and their families. Programs include entertainment while
hospitalized, get-aways for families, patient education, online chat rooms where kids can communicate with other seriously
ill children.
Support
Angels Hands Foundation
A Utah organization that provides support to families of children with rare diseases. Assists with medical needs by purchasing
medical equipment and services not covered by insurance. Includes social and emotional support for families. Works with national
and local organizations.
Hide & Seek Foundation
"Hide & Seek is a community of people dedicated to finding treatments and cures for a devastating genetic condition called
Lysosomal Disease."
LysoLife Community
"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.
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.
For Professionals
Hurler syndrome (OMIM)
A very detailed description of Hurler syndrome, its genetics, clinical features, diagnosis, and treatment; from Online Mendelian
Inheritance in Man (OMIM), from the National Center for Biotechnology Information.
Lysosomal Diseases Testing at Thomas Jefferson University
Provides instructions on shipping and sample requirements for patient and carrier testing (does not include prenatal testing)
to Thomas Jefferson University in Philadelphia, PA. Rarely do they provide mutation analysis on diagnosed patients. Site includes
concise answers to frequently asked questions.
Mucopolysaccharidosis Type I (GeneReviews)
An excellent review of MPS I includes genetics, clinical description, management, resources and references from the GeneReviews
Web site funded by the National Institutes of Health.
Mutation Analysis and Gene Therapy
University of Minnesota website for gene therapy and mutation analysis including testing for newborns. Offers a patented test,
"The MPS Test", which allows the urine sample to be collected by non-medical persons, such as parents or even the patients
themselves, using a simple piece of collection paper.
Patient Education
National MPS Society Booklets
More than 10 booklets (large files) about mucopolysaccharidoses and related diseases for patients, families, and providers;
includes information about MPS I, II, III, IV, VI, VII; ML II/III; daily living; anesthesia; resources, and more.
National MPS Society Fact Sheets
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.
Tools
Aldurazyme (Laronidase) Information for Physicians
(
247 KB)
Two page handout for physicians covering pharmacology, dosage, precautions, and contraindications.
Recommended Schedule of Assessments for MPS I Patients (MPS I Registry)
( 175 KB)
Detailed guide to ongoing assessments prepared to support the international MPS I Registry.
Services
General Dentistry for CSHCN
See all General Dentistry for CSHCN services providers (121) in our database.
Pediatric Gastroenterology
See all Pediatric Gastroenterology services providers (2) in our database.
Pediatric Genetic Counseling
See all Pediatric Genetic Counseling services providers (4) in our database.
Pediatric Physical Medicine & Rehab
See all Pediatric Physical Medicine & Rehab services providers (6) in our database.
For other services related to this condition, browse our Services categories or search our database.
Studies
Current studies of 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.