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Article

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

American journal of human genetics - 1 Aug 1991

Gieselmann V, Fluharty A L, Tønnesen T, Von Figura K

Abstract excerpt

We identified a patient suffering from late infantile metachromatic leukodystrophy who genetically seemed to be homozygous for the mutations signifying the arylsulfatase A pseudodeficiency allele. Homozygosity for the pseudodeficiency allele is associated with low arylsulfatase A activity but does not cause a disease. Analysis of the arylsulfatase A gene in this patient revealed a C----T transition in exon 2,...

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Identifiers

PMID: 1678251
PMCID: PMC1683316

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.PMID 1678251Read ↗

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.Semantic proximity Read ↗

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Diagnosis of arylsulfatase A deficiency.Semantic proximity Read ↗

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An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.Semantic proximity Read ↗

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.Semantic proximity Read ↗

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.Semantic proximity Read ↗

Advances in the molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.Semantic proximity Read ↗

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

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.Semantic proximity Read ↗

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