Article

The Missense Mutation In ARSA Gene Causes The Juvenile Form Of MLD

2022-02-22

Abstract excerpt

<h4>Background: </h4> Metachromatic leukodystrophy (MLD; MIM 250100), is one of the rare lysosomal storage diseases that is due to autosomal recessive inheritance and that causes the deficiency of arylsulfatase A (ARSA) leading to accumulation of sulfatides. The Metachromatic leukodystrophy is caracterizied by the severe neurodegenerative impairment. Case presentation: In this study, we provide a case report of an...

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Literature Corpus work: 273120c7-97ea-572d-8fb6-c589b81b95ae
DOI: 10.21203/rs.3.rs-1374810/v1

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