Molecular genetics of metachromatic leukodystrophy.

doi:10.1007/BF00711364

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Article

Molecular genetics of metachromatic leukodystrophy.

Journal of inherited metabolic disease - 1 Jan 1994

Gieselmann V, Polten A, Kreysing J, von Figura K

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulphatase A. The disease is characterized by a progressive demyelination that causes a variety of neurological symptoms. Patients die within a few years after the age of onset. Clinically the disease is...

Topics

Base Sequence
Cerebroside-Sulfatase
DNA, Complementary
Humans
Leukodystrophy, Metachromatic
Mutation

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