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Article

Molecular genetics of metachromatic leukodystrophy.

Human mutation - 1 Jan 1994

Gieselmann V, Zlotogora J, Harris A, Wenger D A, Morris C P

Abstract excerpt

Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolipid mainly found in the myelin membranes. Deficiency of arylsulfatase A or of a proteolytic product of prosaposin...

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Source

Identifiers

PMID: 7866401
DOI: 10.1002/humu.1380040402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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