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Neuropediatrics 1984; 15: 4-10
DOI: 10.1055/s-2008-1052373
© Georg Thieme Verlag KG Stuttgart · New York

Metachromatic Leukodystrophy: Clinical and Enzymatic Parameters

G. M. McKhann
  • Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland 21205, USA
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Publikationsdatum:
19. März 2008 (online)

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Abstract

Metachromatic leukodystrophy is a recessively inherited disease of children and adults. The basic disorder is a failure of the catabolism of sulfatide, the sulfate ester of galactose cerebroside. This lipid is a component of the myelin membrane and is probably a component of neuronal membranes as well. The various forms of clinical presentation, the aids to diagnosis, the genetic variations of arylsulfatase A, the enzyme involved in sulfatide catabolism, and possible approaches to therapy are presented.

Key words

Metachromatic leukodystrophy - Sulfatide - Arylsulfatase A - Degenerative disease of the nervous system