Living with Mucopolysaccharidosis type 1
An inherited condition with severe and milder types that can affect the face, heart, eyes, hearing, bones, and joints.
Understanding Mucopolysaccharidosis type 1
It was once split into three syndromes: Hurler, Hurler-Scheie, and Scheie, from most to least severe. Children often have no signs at birth, though some have hernias. People with severe MPS I show signs in the first year, and those with the milder form develop features later in childhood. Features can include coarse facial features, a large tongue, an enlarged liver and spleen, heart valve differences, clouded corneas, hearing loss, short stature, and joint stiffness. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coarse facial features
- Cloudy corneas
- Hernias
- Chronic ear infections and hearing loss
- Breathing pauses during sleep (apnea)
- Spine, hip, and other bone differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National MPS Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: alpha-l-iduronidase deficiency; idua deficiency; iduronidase deficiency disease; l-iduronidase deficiency; lipochondrodystrophy; mps i
Patient organizations
- National MPS SocietyMucopolysaccharidosis type 1 · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucopolysaccharidosis type 1.
Explore research for Mucopolysaccharidosis type 1
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