USMLE

Metachromatic Leukodystrophy

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Lysosomal Storage Diseases
  1. Krabbe Disease
  2. Hurler and Hunter Syndromes
  3. Fabry Disease
  4. Tay-Sachs and Niemann-Pick
  5. Gaucher Disease
  6. Metachromatic Leukodystrophy
  7. I-Cell Disease

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.


Find Metachromatic Leukodystrophy and more Lysosomal Storage Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.