Alpha-L-Iduronidase deficiency; Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome); Hurler syndrome (subtype); Hurler-Scheie syndrome (subtype); IDUA deficiency; MPS 1; MPS I; Scheie syndrome (subtype) formerly known as Mucopolysaccharidosis type V); Severe MPS I (subtype, also known as Hurler syndrome)Alpha-L-Iduronidase deficiency; Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome); Hurler syndrome (subtype); Hurler-Scheie syndrome (subtype); IDUA deficiency; MPS 1; MPS I; Scheie syndrome (subtype) formerly known as Mucopolysaccharidosis type V); Severe MPS I (subtype, also known as Hurler syndrome)
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. MPS I is caused by genetic changes in the IDUA gene. These genetic changes lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition. MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe.
Resource(s) for Medical Professionals and Scientists on This Disease:
GeneReviews provides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling.
About Mucopolysaccharidosis type I
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 5,000 people in the U.S. have this disease.
Symptoms:May start to appear at any time in life.
Cause:This condition is caused by a change in the genetic material (DNA).
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
Newborn Screening:This condition may be detected through routine newborn screening.
When Do Symptoms of Mucopolysaccharidosis type I Begin?
Symptoms of this disease may start to appear at any time in life.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear at any time in life.
Symptoms
The number and severity of symptoms experienced may differ among people with this disease. Your experience may be different from others, and you should consult your primary care provider for more information.
This list is not all-inclusive, but the following symptoms have been linked to this disease:
Musculoskeletal... Musculoskeletal System
56 Symptoms
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Tile View
List View
Musculoskeletal System
The musculoskeletal system is made up of the bones, muscles, and joints. Common symptoms of problems in the musculoskeletal system include pain, weakness, stiffness, noises in the joints, inflammation, and decreased range of motion. Diseases affecting the musculoskeletal system may be diagnosed and treated by an orthopedist, rheumatologist, or neuromuscular specialist.
Medical Term
Abnormal form of the vertebral bodies
Frequency
Uncommon
Very frequent
Very frequent
Always
Description
Abnormal morphology of vertebral body.
Abnormal morphology of vertebral body.
Synonym
Abnormally shaped vertebrae
Abnormally shaped vertebrae
56 Symptoms
Causes
This section is currently in development.
Inheritance
All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):
Autosomal Recessive Inheritance
Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
A person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease.
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Advocacy and Support Groups
How Can Patient Organizations Help?
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
Learn about symptoms, cause, support, and research for a rare disease.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Find resources for patients and caregivers that address the challenges of living with a rare disease.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
