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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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Inheritance


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How is metachromatic leukodystrophy inherited?

Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition.

When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 6/28/2012