Diagnosing
Mucopolysaccharidosis
Understanding causes and symptoms to help patients learn about the disease and the correct diagnosis and treatment.
Intro: Mucopolysaccharidoses (MPS)
Mucopolysaccharidoses (MPS) are a group of rare inherited disorders characterized by the abnormal buildup of sugar molecules called glycosaminoglycan (GAGs). There are multiple types of MPS, and each is caused by defects in the molecules responsible for breaking down a particular GAG. As the disease progresses and GAG buildup increases multiple organ systems are damaged.
Select a type to find resources for you:
- Select a disease type
Featured videos
What Are the Symptoms Associated With Mucopolysaccharidosis and Mucolipidosis?
- MPS I-H: What Are the Symptoms?
- Hurler Syndrome Symptoms
- Hunter Syndrome: Signs and Symptoms
- Early Signs and Symptoms of Hunter Syndrome
- Major Signs & Symptoms of Hunter Syndrome
- What Is Sanfilippo Syndrome?
- Morquio Syndrome
- Clinical Manifestations of Morquio A Disease and Percentage of Symptoms
- What is Mucolipidosis II (ML II)?
- I Cell Disease
- Pseudo Hurler Polydystrophy
- Signs and Symptoms of Mucolipidosis II Alpha/Beta
- What is MPS VII (Mucopolysaccharidosis 7): Causes and Symptoms
- A Brief Understanding About MPS Type I (Hurler, Hurler-Scheie and Scheie)
- Your Guide to Mucopolysaccharidosis I (MPS I)
- Chase the Signs of MPS II (Hunter Syndrome)
- What is MPS VI?
- I-Cell Disease, ML II, ML III, Pseudo-Hurler Polydystrophy: A Clinical and Scientific History
- Mucopolysaccharidosis Type VI (MPS VI or Maroteaux-Lamy Syndrome)
- MPS IX (Natowicz)
- Mucopolysaccharidosis Type IX
- Mucolipidosis IV
- Causes, Signs and Symptoms of Sanfilippo Syndrome?
- Mucopolysaccharidosis Type III (MPS III or Sanfilippo Syndrome)
- Mucopolysaccharidosis Type IV Morquio Disease
- Mucopolysaccharide Storage Disease Type I: Hurler, Hurler-Scheie, and Scheie Syndromes
- Symptoms of Mucopolysaccharidosis Type IVA
- Signs & Symptoms of Morquio Syndrome (MPS IV A)
- Mucopolysaccharidosis Type IV Symptoms
- What is Sly Syndrome?
Fact Sheets About Different Types of Mucopolysaccharidosis and Mucolipidosis
- Care Guide for Patients With Mucolipidosis Type IV
- A Guide to Understanding MPS II
- A Guide to Understanding MPS III
- A Guide to Understanding MPS IV
- MPS and Other Similar Lysosomal Diseases
- A Guide to Understanding MPS VI
- Mucolipidoses Fact Sheet
- A Guide to Understanding MPS VII
- A Guide to Understanding ML II and III
- Mucolipidosis Type IV
What Are Some Other Complications Associated With Mucopolysaccharidosis and Mucolipidosis?
- Ocular Complications of Mucopolysaccharidosis
- Complications Associated With MPS VI
- Neurocognitive Manifestations in MPS Disorders
- MPS I Disease Complications
- Carpal Tunnel Syndrome and Trigger Digits
- How Hunter Syndrome (MPS II) Progresses
- Anesthesiological Risks in Mucopolysaccharidoses
- Comparison of the Mucolipidosis (ML) II and ML III Phenotypes
- Mucolipidosis Type IV: Complications
- The Link Between MPS VII and Non-Immune Hydrops Fetalis (NIHF)
- The Health Complications of Morquio A Can Affect Endurance
- Is it Hunter syndrome?
- Hunter Syndrome (MPS II) Symptoms
What Medical Tests Are Used to Diagnose Mucopolysaccharidosis and Mucolipidosis?
- I-cell Disease Test
- Available Tests for Establishing a Diagnosis of Hunter Syndrome (MPS II)
- Regular Tests and Check-Ups for MPS VI
- Diagnosis of MPS
- Common Diagnostic Journey For MPS VII Patients
- Understanding the Benefits of Genetic Testing
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
- Chondroitin Sulfate Disaccharide As a Biomarker for MPS IVA
- Diagnosis of MPS II
- Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities
- Diagnosis of Mucopolysaccharidoses
- Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement
Which Healthcare Providers May Be Involved in Diagnosing or Treating Mucopolysaccharidosis and Mucolipidosis?
How Does Mucopolysaccharidosis and Mucolipidosis Affect Your Daily Living?
- Daily Living With MPS and Related Diseases
- Emotional Responses To The Diagnosis Of MPS Aand Related Diseases
- Living With MPS II: Brain Involvement
- Is Your Child Having an Anesthetic?
- Travel Tips for Families Affected by Sanfilippo Syndrome
- Adaptive Devices
- Getting Into a Relationship With MPS or ML
- Independent Living
How to Manage Mucopolysaccharidosis and Mucolipidosis?
What Are the Challenges Faced by Caregivers?
- Education Strategies and Resources: A Guide for Parents
- A Caregiver’s Guide - Hunter Syndrome
- How to Deal With the Stress and Anxiety From Taking Care of a Child With MPS
- Guardianship/Conservatorship: Protecting Your Adult Child With MPS or ML
- Family Coping
- Sanfilippo Syndrome Information for Newly Diagnosed Families
- Feeding and Nutrition in Children With Mucolipidosis Type 2 (ML2)
- Medical Alert for Parents of Children With I Cell Disease and the Physicians Who Care for Them
- Parental Support
What Are the Treatment Options Available for Mucopolysaccharidosis and Mucolipidosis?
- Disease-Modifying and Supportive Treatments for MPS VI
- Surgical Treatments for MPS VI Symptoms
- Advances in Approaches to Care and Monitoring of MPS Disease
- Mucopolysaccharidosis (MPS) - Perioperative Management
- Current Treatment Options for Hurler Syndrome (Mucopolysaccharidosis Type I or MPS I)
- Gene Therapy and Sanfilippo Syndrome Type A
- Enzyme Replacement Therapy for Mucopolysaccharidosis
- Gene Therapy for MPS
- Physical Therapy For Children With MPS And ML
- VIMIZIM® (Elosulfase Alfa) Works to Help With Deficient Enzyme Activity
- How MEPSEVII® May Work
- Developing a Treatment Plan for Sanfilippo Syndrome
- Enzyme Replacement Therapy
- Hematopoietic Stem Cell Transplantation
What Are Some Patients’ and Caregivers’ Experience With Mucopolysaccharidosis and Mucolipidosis?
- Matteo's Story: The Importance of Newborn Screening
- Helen: The Power of Positivity
- Hunter, Kingston and Nash’s Story – Living With Hunter syndrome
- The Rousse Family - Story of Austin
- The Marino Family - Story of Danielle
- I Want to Live in the Moment While There’s Still Time
- Raising an Adult Child With Sanfilippo Syndrome Is Tiring
- Aiden and Aj's story - Living With Hunter Syndrome
- Bone Marrow Transplant to Treat Hurler Syndrome: Josie’s Story
- Annabelle's Journey With Mucopolysaccharidoses
- BioMarin MPS Patient Stories: Sheri
- Patient Stories: Dane’s Journey With Morquio A
- Story of Kendra
- Shafon: An MPS VI Story
- Damian and Jesse-Rose
- Story of Kelley Crompton
- Story of Kelley Crompton
- An Inside Look at Mucopolysaccharidosis Type I (MPS I)
- Sanfilippo/MPS: The Road to Diagnosis
- Elaine's Story
- Meet Nicholas and Christopher
- Story of Matthew Evangelista
- Emotional Nights at Home With My Sister
- Peter Chalouhy Sanfilippo Story
- Jacob Chalmers Sanfilippo Story
How to Talk to Your Care Team About Your Disease?
Key resources
What Are Some In-Person/Digital Support Groups for People Diagnosed With Mucopolysaccharidosis and Mucolipidosis?
Looking for additional information? Check out the Trusted Resources section!
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