Metachromatic leukodystrophy: clinical and enzymatic parameters.

G. M. McKhann

doi:10.1055/s-2008-1052373

Metachromatic leukodystrophy: clinical and enzymatic parameters.

G. M. McKhann

Krieger School of Arts and Sciences

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

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 language	English (US)
Pages (from-to)	4-10
Number of pages	7
Journal	Neuropediatrics
Volume	15 Suppl
DOIs	https://doi.org/10.1055/s-2008-1052373
State	Published - Sep 1984

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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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.",

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AB - 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.

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Metachromatic leukodystrophy: clinical and enzymatic parameters.

Abstract

ASJC Scopus subject areas

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