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Metachromatic leukodystrophy (MLD; OMIM #250100) is a panethnic, autosomal recessive disease characterized by intralysosomal accumulation of sulfatides, mainly in oligodendrocytes and Schwann cells. MLD classically presents in childhood, and results from mutations in ARSA gene,1 encoding arylsulfatase A (ARSA), a lysosomal enzyme responsible for sulfatide degradation.
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↵* These authors contributed equally to this work.
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- Received January 24, 2019.
- Accepted in final form May 16, 2019.
- © 2019 American Academy of Neurology
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