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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Metachromatic leukodystrophy


Other Names for this Disease
  • ARSA deficiency
  • Arylsulfatase A deficiency
  • Cerebral sclerosis diffuse metachromatic form
  • Cerebroside sulfatase deficiency
  • Leukodystrophy metachromatic
More Names
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Your Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • My 2 year old grandson has MLD. So both parents are carriers. I have three other children and 2 of them have one child each. All 3 of my other children are planning to have another child. Who in the family needs to be tested for the carrier gene for MLD? Does a child of a carrier automatically become a carrier as well? Will that carrier gene continue to be passed on and should all my family be tested? Click here for answer

  • We found out my cousin has metachromatic leukodystrophy about 8 months ago. He has the adult form. He was having some problems about a year before we found out. I was wondering how long he might have to live and how bad the disease will get over time. Click here for answer