DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Maple Syrup Urine Disease (MSUD)

HIGH SEVERITY

An inherited amino acid disorder affecting branched-chain amino acid (leucine, isoleucine, valine) metabolism due to BCKDH deficiency. Named for characteristic sweet odor of urine. Can cause severe brain damage if untreated.

Global Affected

5.0K

Countries

15

Symptoms

Poor feeding
Lethargy
High-pitched cry
Seizures
Coma
Developmental delay
Maple syrup odor
Hypoglycemia

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Good with strict dietary management and prompt treatment of crises. Intellectual disability preventable with early diagnosis. Metabolic crises can be life-threatening. Liver transplant curative.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Strict dietary restriction of branched-chain amino acids. Thiamine-responsive variants exist. Liver transplant curative for classical MSUD. Newborn screening essential. Gene therapy research ongoing.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanAMBelarusAzerbaijanGEMDUkraine

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

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