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From , former About.com Guide

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ENCYCLOPEDIA INDEX
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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Metachromatic leukodystrophy
Overview Symptoms Treatment Prevention
Alternative Names:
MLD; Arylsulfatase A deficiency
Symptoms:
Signs and tests:
Signs include: Tests include:
  • nerve velocity conduction studies
  • MRI
  • CT scan
  • lumbar puncture and examination of the cerebrospinal fluid, showing increased CSF total protein
  • nerve biopsy (usually performed on the sural nerve) showing metachromatic deposits
  • urine chemistry showing markedly increased sulfatide levels
  • urinalysis showing metachromatic granules in the urine sediment
  • culture of skin fibroblasts or white blood cells for decreased arylsulfatase A activity
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