DISEASE SCANNER

Global Incurable Diseases Tracker

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Metabolic Disorder

Mucopolysaccharidosis Type I (MPS I)

HIGH SEVERITY

Lysosomal storage disorder caused by deficiency of alpha-L-iduronidase enzyme. Accumulation of glycosaminoglycans affects multiple organ systems. Spectrum from severe Hurler syndrome to attenuated Scheie syndrome.

Global Affected

5.0K

Countries

15

Symptoms

Coarse facial features
Skeletal abnormalities
Joint stiffness
Hepatosplenomegaly
Cardiac disease
Respiratory problems
Developmental delay
Corneal clouding

Treatment Options

Enzyme replacement therapy (laronidase)
Hematopoietic stem cell transplant
Gene therapy (trials)
Supportive care
Orthopedic surgery
Cardiac management

Risk Factors

1Autosomal recessive inheritance
2Family history
3Consanguinity

Diagnostic Methods

  • 1Enzyme activity assay
  • 2Urinary glycosaminoglycans
  • 3Genetic testing
  • 4Skeletal survey
  • 5Echocardiogram
  • 6Ophthalmologic examination

Prognosis

Severe Hurler syndrome: without treatment, death by age 10. With early HSCT, survival to 20s-30s with significant disability. Attenuated forms: normal intelligence, life expectancy into 40s-50s with ERT. Cardiac and respiratory complications limit lifespan. Early intervention critical for best outcomes.

Prevention

  • Genetic counseling
  • Newborn screening
  • Prenatal diagnosis
  • Carrier testing

Research Status

Enzyme replacement therapy (laronidase) for non-CNS manifestations. Hematopoietic stem cell transplant for severe Hurler syndrome. Gene therapy in clinical trials. Multidisciplinary care essential.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1162
  • https://rarediseases.org
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases
  • https://www.newbornscreening.info

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.