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Article

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

Gene - 15 Aug 2015

Virgens M Y F, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira M L

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder inherited as an autosomal recessive trait. MLD is caused by the deficiency of arylsulfatase A (ARSA), a lysosomal enzyme that catalyzes the first step in the degradation of sulfated glycolipids, which are essential components of the myelin sheet. Notably, between 7% and 15% of healthy individuals show in vitro deficiency of ARSA, a condition...

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Source

Identifiers

PMID: 25965562
DOI: 10.1016/j.gene.2015.05.016

Genes

ARSA

Variants

Provenance

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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