Metachromatic Leukodystrophy

  • Volkmar Gieselmann

Metachromatic leukodystropy is a sphingolipid storage disease caused by mutations in the arylsulfatase A gene. Arylsulfatase A is a lysosomal enzyme involved in the degradation of various sulfated glycolipids. Its major substrate is 3-O-sulfo-galactosylceramide (sulfatide). Arylsulfatase A deficiency leads to sulfatide storage most importantly in oligodendrocytes and Schwann cells of the nervous system. The pathological hallmark of the disease is a progressive demyelination, which results in multiple, finally lethal neurologic symptoms. This chapter summarizes clinical, genetic, diagnostic, and biochemical aspects of this disease.


Sialic Acid Metachromatic Leukodystrophy Free Sialic Acid Salla Disease Sulfatide Storage 
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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Volkmar Gieselmann
    • 1
  1. 1.Institute for Physiological ChemistryUniversitat BonnBonnGermany

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