DISEASE SCANNER

Global Incurable Diseases Tracker

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Metabolic Disorder

Mucopolysaccharidosis Type I (Hurler Syndrome)

HIGH SEVERITY

The severe form of MPS I caused by alpha-L-iduronidase deficiency. Characterized by multisystem involvement including coarse facies, skeletal abnormalities, intellectual disability, cardiac disease, and hepatosplenomegaly. Rapid progression without treatment.

Global Affected

50.0K

Countries

15

Symptoms

Coarse facial features
Skeletal abnormalities (dysostosis multiplex)
Intellectual disability
Cardiac disease
Hepatosplenomegaly
Corneal clouding
Recurrent infections
Developmental regression

Treatment Options

Hematopoietic stem cell transplantation (HSCT)
Enzyme replacement therapy (laronidase)
Gene therapy (emerging)
Surgical interventions
Cardiac management
Physical therapy
Educational support

Risk Factors

1Autosomal recessive inheritance
2IDUA gene mutations
3Consanguinity
4Family history

Diagnostic Methods

  • 1Urine GAG excretion
  • 2Enzyme assay
  • 3Genetic testing
  • 4Skeletal survey
  • 5Echocardiogram
  • 6Sleep study

Prognosis

Without treatment, death by age 10. HSCT before age 2 preserves cognition; ERT improves somatic symptoms but not CNS. Early intervention critical.

Prevention

  • Newborn screening
  • Genetic counseling
  • Prenatal diagnosis
  • Early HSCT
  • Family screening

Research Status

Hematopoietic stem cell transplantation (HSCT) and Enzyme replacement therapy (laronidase) are primary treatments. Research focuses on improved therapies and outcomes.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
  • https://www.nichd.nih.gov/health/topics/mps1
  • https://www.ncbi.nlm.nih.gov/books/NBK1162

Medical Disclaimer

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