metachromatic leukodystrophy

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Disease Overview

A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


Synonyms

  • MLD
  • Scholz cerebral sclerosis
  • arylsulfatase A deficiency
  • deficiency of cerebroside-sulfatase
  • sulfatide lipoidosisMLD
  • Scholz cerebral sclerosis
  • arylsulfatase A deficiency
  • deficiency of cerebroside-sulfatase
  • sulfatide lipoidosis