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Article

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

Orphanet journal of rare diseases - 4 Nov 2019

Beerepoot Shanice, Nierkens Stefan, Boelens Jaap Jan, Lindemans Caroline, Bugiani Marianna, Wolf Nicole I

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of sulfatides in neural and visceral tissues, and causes demyelination of the central and peripheral nervous system. This leads to a broad range of neurological symptoms and eventually premature death. In...

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Identifiers

PMID: 31684987
DOI: 10.1186/s13023-019-1220-4
PMCID: PMC6829806

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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