Metachromatic leukodystrophy: clinical and enzymatic parameters.

G. M. McKhann

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)4-10
Number of pages7
JournalNeuropediatrics
Volume15 Suppl
StatePublished - Sep 1984
Externally publishedYes

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Metachromatic Leukodystrophy
Sulfoglycosphingolipids
Cerebroside-Sulfatase
Cerebrosides
Membranes
Myelin Sheath
Galactose
Sulfates
Esters
Lipids
Enzymes
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Metachromatic leukodystrophy : clinical and enzymatic parameters. / McKhann, G. M.

In: Neuropediatrics, Vol. 15 Suppl, 09.1984, p. 4-10.

Research output: Contribution to journalArticle

McKhann, G. M. / Metachromatic leukodystrophy : clinical and enzymatic parameters. In: Neuropediatrics. 1984 ; Vol. 15 Suppl. pp. 4-10.
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