Advances in the molecular genetics of metachromatic leukodystrophy.

doi:10.1007/BF01799513

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Article

Advances in the molecular genetics of metachromatic leukodystrophy.

Journal of inherited metabolic disease - 1 Jan 1990

Gieselmann V, von Figura K

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulphatase A (EC 3.1.6.1). This results in the intralysosomal storage of cerebroside sulphate, which leads to a progressive demyelination of the nervous system. The patients usually die within a few years...

Topics

Amino Acid Sequence
Base Sequence
Bone Marrow Transplantation
Cerebroside-Sulfatase
DNA
Glycoproteins
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation
Saposins
Sphingolipid Activator Proteins

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