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Article

High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

American journal of human genetics - 1 Aug 1993

Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin J C, Baumann N, von Figura K, Gieselmann V

Abstract excerpt

We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%. Fibroblasts of the patient show significant sulfatide degradation activity exceeding that of adult MLD patients. Analysis of the ARSA gene in this patient revealed heterozygosity for two new mutant alleles: in one allele, deletion of C 447 in exon 2 leads to a...

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Identifiers

PMID: 8101038
PMCID: PMC1682342

Genes

ARSA

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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High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.PMID 8101038Read ↗

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A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.Semantic proximity Read ↗

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An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

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