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Arylsulfatase A in pseudodeficiency.

B Herz, G Bach

    Human Genetics
    |January 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Healthy individuals can have low arylsulfatase A (ASA) activity, mimicking metachromatic leukodystrophy. This pseudodeficiency results from a common genetic variant, showing normal enzyme function despite low levels.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Enzymology

    Background:

    • Arylsulfatase A (ASA) deficiency causes metachromatic leukodystrophy (MLD).
    • Some healthy individuals exhibit low in vitro ASA activity, termed pseudo arylsulfatase A deficiency (PAD).
    • PAD presents with in vitro ASA levels similar to MLD patients, raising diagnostic challenges.

    Purpose of the Study:

    • To investigate the in vitro properties of ASA in individuals with pseudo arylsulfatase A deficiency.
    • To determine if low ASA activity in PAD is due to enzyme instability or altered kinetics.
    • To assess the prevalence of the pseudodeficiency allele in the general population.

    Main Methods:

    • Cultured fibroblasts from PAD individuals were used to study ASA activity.
    • Enzyme kinetics (Km, pH optimum, thermostability) were analyzed.

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  • Cells were disrupted using various methods to assess enzyme sensitivity.
  • ASA activity was screened in lymphocyte extracts from a random population sample.

    • Main Results:

    • Residual ASA activity in PAD fibroblasts showed normal kinetic properties (Km, pH optimum, heat sensitivity).
    • Disruption methods did not alter the ratio of ASA activity between PAD and control samples.
    • Antiproteases did not affect residual ASA activity in PAD.
    • Screening revealed a pseudodeficiency allele frequency of approximately 15% in the general population.

    Conclusions:

    • ASA in pseudo arylsulfatase A deficiency exhibits normal enzymatic properties, suggesting sufficient catalytic function despite lower expression.
    • The low in vitro activity is not due to enzyme instability or sensitivity to sample processing.
    • Pseudo arylsulfatase A deficiency represents a common polymorphism, not a disease state, in the general population.