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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Aug;49(2):407–413.

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

V Gieselmann 1, A L Fluharty 1, T Tønnesen 1, K Von Figura 1
PMCID: PMC1683316  PMID: 1678251

Abstract

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, causing a Ser 96----Phe substitution in addition to the sequence alterations causing arylsulfatase A pseudodeficiency. Although this mutation was found only in 1 of 78 metachromatic leukodystrophy patients tested, five more patients were identified who seemed hetero- or homozygous for the pseudodeficiency allele. The existence of nonfunctional arylsulfatase A alleles derived from the pseudodeficiency allele calls for caution when the diagnosis of arylsulfatase A pseudodeficiency is based solely on the identification of the mutations characterizing the pseudodeficiency allele.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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