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Advances in the molecular genetics of metachromatic leukodystrophy

✍ Scribed by V. Gieselmann; K. von Figura


Publisher
Springer
Year
1990
Tongue
English
Weight
981 KB
Volume
13
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

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Late infantile metachromatic leukodystrophy (MLD) is a neurodegenerative disease, most commonly caused by the deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Late infantile MLD is frequent (1/75 live birth) in a small Jewish community which lived in Habban, isolated from the other Jewish