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Metachromatic leukodystrophy: Molecular genetics and an animal model

✍ Scribed by V. Gieselmann; U. Matzner; B. Hess; R. Lüllmann-Rauch; R. Coenen; D. Hartmann; R. D'Hooge; P. Dedeyn; G. Nagels

Book ID
110225068
Publisher
Springer
Year
1998
Tongue
English
Weight
114 KB
Volume
21
Category
Article
ISSN
0141-8955

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Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip