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Article

The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.

Human mutation - 1 Jan 1998

Ricketts M H, Poretz R D, Manowitz P

Abstract excerpt

Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H mutation and found this mutation at a relatively high frequency in an African American population (f=0.09, n=61...

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Source

Identifiers

PMID: 9744473
DOI: 10.1002/(SICI)1098-1004(1998)12:4<238::AID-HUMU3>3.0.CO;2-B

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.

Related research

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The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.PMID 9744473Read ↗

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

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Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.Semantic proximity Read ↗

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.Semantic proximity Read ↗

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.Semantic proximity Read ↗

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The Missense Mutation In ARSA Gene Causes The Juvenile Form Of MLDSemantic proximity Read ↗

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.Semantic proximity Read ↗

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