Review Note

Last Update: 12/09/2024 11:18 AM

Current Deck: BUMed Mother Deck::YL2.S1-PATHOLOGY::PTH.S1.L15.Diseases of the Central Nervous System::Genetic Metabolic Diseases

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Metachromatic Leukodystrophy
  • Autosomal recessive 
  • Due to deficiency of the {{c1::lysosomal enzyme}}, {{c2::arylsulfatase A }}
  • Demyelination with resulting {{c3::gliosis }}
  • {{c4::Metachromasia}} - shifting of spectrum when sulfatides bind to dyes such as toluidine blue; may be detected in peripheral nerves and in urine
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