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

Kafert S., Heinisch U., Zlotogora J., Gieselmann V.

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.

Hum. Genet. 95:201-204(1995) [PubMed] [Europe PMC]

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