Metachromatic leukodystrophy: recent research developments.

@article{Gieselmann2003MetachromaticLR,
  title={Metachromatic leukodystrophy: recent research developments.},
  author={Volkmar Gieselmann},
  journal={Journal of child neurology},
  year={2003},
  volume={18 9},
  pages={591-4}
}
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A, causing the storage of the sphingolipid sulfatide. The disease is characterized by a progressive demyelination, which results in severe, finally lethal, neurologic symptoms. Genetically, the disease is heterogeneous, most mutant alleles are private, and only three have a frequency worth mentioning. An arylsulfatase A-deficient knockout mouse displays some of the disease features seen in… CONTINUE READING