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

doi:10.1007/BF02436761

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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...

Topics

Cerebroside-Sulfatase
Genotype
Heterozygote
Humans
Leukodystrophy, Metachromatic
Mutation

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