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Article

Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.

Journal of inherited metabolic disease - 1 Jan 1995

Leistner S, Young E, Meaney C, Winchester B

Abstract excerpt

A benign deficiency (pseudodeficiency) of the lysosomal enzyme arylsulphatase A (ASA) (EC 3.1.6.8) towards synthetic substrates complicates the diagnosis of metachromatic leukodystrophy (MLD). The pseudodeficiency is due to a single base substitution in the 3'-untranslated region of the ASA gene (1524+95 A-->G) and it has been reported that this mutation (PD2) always occurs on a chromosome carrying a second...

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Identifiers

PMID: 8750609
DOI: 10.1007/BF02436761

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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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Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.PMID 8750609Read ↗

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.Semantic proximity Read ↗

Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.Semantic proximity Read ↗

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.Semantic proximity Read ↗

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.Semantic proximity Read ↗

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.Semantic proximity Read ↗

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

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.Semantic proximity Read ↗

Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis?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 ↗

Arylsulfatase A pseudodeficiency--incidence in Poland.Semantic proximity Read ↗

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