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Article

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

Journal of medical genetics - 1 Sept 1994

Barth M L, Ward C, Harris A, Saad A, Fensom A

Abstract excerpt

Arylsulphatase A (ASA, EC 3.1.6.1) is a lysosomal enzyme that catalyses cerebroside sulphate degradation. ASA deficiency is associated with metachromatic leucodystrophy (MLD), a rare autosomal recessive disorder, which is characterised by the storage of cerebroside sulphate. Low ASA activities can be also observed in clinically healthy persons, a condition termed ASA pseudodeficiency. Two mutations responsible...

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Identifiers

PMID: 7815433
DOI: 10.1136/jmg.31.9.667
PMCID: PMC1050073

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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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