DISEASE SCANNER
Global Incurable Diseases Tracker
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Rare Disease
Mucopolysaccharidoses (MPS)
HIGH SEVERITY
A group of inherited lysosomal storage disorders caused by deficiency of enzymes needed to break down glycosaminoglycans (GAGs). Seven types (MPS I-VII) with varying severity. Accumulation of GAGs affects multiple organ systems.
Global Affected
15.0K
Countries
15
Symptoms
Coarse facial features
Skeletal dysplasia
Cardiac disease
Respiratory problems
Hepatosplenomegaly
Developmental delay
Corneal clouding
Treatment Options
Specialized care
Supportive treatment
Enzyme replacement
Gene therapy
Clinical trials
Multidisciplinary management
Symptom control
Risk Factors
1Genetic mutations
2Family history
3Consanguinity
4Ethnic predisposition
5De novo mutations
Diagnostic Methods
- 1Genetic testing
- 2Specialized biochemical tests
- 3Imaging
- 4Biopsy
- 5Clinical evaluation
- 6Specialist consultation
Prognosis
Variable; many rare diseases have limited treatment options but research is advancing rapidly. Early diagnosis crucial for optimal management.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Newborn screening
- Family planning
Research Status
Enzyme replacement therapy for MPS I, II, IVA, VI. Hematopoietic stem cell transplant for severe MPS I, VI, VII. Gene therapy trials ongoing. Elaprase, Aldurazyme, Vimizim approved.
Affected Countries
Sources
- https://rarediseases.org
- https://www.ncbi.nlm.nih.gov/books/NBK1262
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.