Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.

@article{TylkiSzymaska1996LateJM,
  title={Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.},
  author={Anna Tylki-Szymańska and Johannes Berger and B L{\"o}schl and Agnieszka Lugowska and Brunhilde Molzer},
  journal={Clinical genetics},
  year={1996},
  volume={50 5},
  pages={287-92}
}
Metachromatic leukodystrophy (MLD) is an autosomal, recessively inherited, lysosomal storage disease caused by arylsulfatase A (ASA) activity deficit. Arylsulfatase A initiates the degradation of sulfatide (cerebroside sulfate), which is an essential component of myelin. The main clinical symptoms are caused by progressive demyelination. At least 34 MLD-related ASA mutations are known to date. I179S (E3P799) is a disease-related mutation, described for the first time by Fluharty in 1991. This… CONTINUE READING

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