Metachromatic Leukodystrophy (Sulfatide Lipidosis)

Chapter

Abstract

  • © 2014 Elsevier Inc. All rights reserved. Metachromatic leukodystrophy (sulfatide lipidosis), an autosomal recessive neurodegenerative disorder of sulfatide catabolism, occurs in 1:40. 000 births. Clinical variability represents a continuum of phenotypes, late infantile to adulthood, including regression of development in late infancy, declining schoolwork during childhood/adolescence, and poor work performance in adulthood. White matter abnormalities characterize late infantile and childhood presentations, gray and white matter abnormalities in later forms. Diagnosis requires assessing deficient arylsulfatase A activity in white cells/cultured skin fibroblasts; the rare protein activator deficiency requires demonstration of sulfatide sulfatase deficiency in cultured skin fibroblasts and absence of activator substance. Treatment is limited to supportive care.
  • Authors

    Digital Object Identifier (doi)

    International Standard Book Number (isbn) 13

  • 9780123851581
  • Pubmed Id

  • 6381731
  • Start Page

  • 1108
  • End Page

  • 1110