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Lysosomal Storage Diseases

Metachromatic Leukodystrophy
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Metachromatic Leukodystrophy

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Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by an arylsulfatase A deficiency.

The deficiency of arylsulfatase A leads to an accumulation of the sphingolipid, cerebroside sulfate. Metachromatic leukodystrophy is characterized by degeneration of white matter in the brain (leukodystrophy), a result of abnormal myelination. Specifically, oligodendrocytes are affected by a build-up of cerebroside sulfate and its metabolites. Patients with metachromatic leukodystrophy present with neurologic dysfunction, notably dementia and ataxia.


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