Metachromatic leukodystrophy

Gerald V. Raymond

Research output: Chapter in Book/Report/Conference proceedingChapter


MLD is a progressive, genetic demyelinating condition resulting from disruption of the action of arylsulfatase A with the accumulation of sulfated glycolipids in the nervous system of affected individuals. All the genetic leukodystrophies result in the loss of previously acquired skills, spasticity, cortical vision loss, and lead to spastic quad-riparesis with bulbar dysfunction and the diagnosis rests on the accurate biochemical or genetic diagnosis. Curative therapy has been elusive, but the use of hematopoietic stem cell transplantation offers in selected individuals the ability to arrest the disease. Symptomatic care remains a mainstay for individuals and their families who are too advanced for transplantation.

Original languageEnglish (US)
Title of host publicationTreatment of Pediatric Neurologic Disorders
PublisherCRC Press
Number of pages4
ISBN (Electronic)9780849340888
ISBN (Print)0824726936, 9780824726935
StatePublished - Jan 1 2005

All Science Journal Classification (ASJC) codes

  • General Medicine


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