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Journal of Inherited Metabolic Disease

, Volume 18, Issue 6, pp 710–716 | Cite as

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

  • S. Leistner
  • E. Young
  • C. Meaney
  • B. Winchester
Article

Summary

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 mutation in the ASA gene (PD1), which abolishes anN-glycosylation site (N350S). Analysis of the two PD mutations in the ASA gene separately was carried out in a large group of subjects with neurological symptoms and low ASA activity, including close relatives and MLD patients. The relationship between ASA enzyme activity and the different genotypes identified is presented. Evidence for the existence of an allele containing the PD2 mutation alone is presented. A strategy for cases with low ASA activity and neurological symptoms in families carrying a PD allele or both PD and MLD alleles is proposed.

Keywords

Osteogenesis Imperfecta Arylsulfatase Single Base Substitution Metachromatic Leukodystrophy Fetal Genotype 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • S. Leistner
    • 1
  • E. Young
    • 1
  • C. Meaney
    • 1
  • B. Winchester
    • 1
  1. 1.Division of Biochemistry and GeneticsInstitute of Child HealthLondonUK

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