Human Genetics

, Volume 95, Issue 2, pp 201–204 | Cite as

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme

  • Sabine Kafert
  • Uwe Heinisch
  • Joel Zlotogora
  • Volkmar Gieselmann
Original Investigation


Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine. The patient was homozygous for this mutation. Studies on Ltk- cells stably expressing the mutant enzyme show that the mutation causes complete loss of enzyme activity and rapid degradation in an early biosynthetic compartment.


Proline Leucine Metabolic Disease Point Mutation Missense Mutation 
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

© Springer-Verlag 1995

Authors and Affiliations

  • Sabine Kafert
    • 1
  • Uwe Heinisch
    • 1
  • Joel Zlotogora
    • 2
  • Volkmar Gieselmann
    • 1
  1. 1.Institut für Biochemie II, Georg August UniversitätGöttingenGermany
  2. 2.Department of Human GeneticsHadassah Medical OrganizationJerusalemIsrael

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