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Genetic and Rare Diseases Information Center (GARD)

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Leigh syndrome

Other Names for this Disease
  • Leigh's disease
  • Leigh's necrotizing encephalopathy
  • LS
  • Necrotizing encephalopathy infantile subacute of Leigh
  • SNE
More Names
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How is Leigh syndrome inherited?

The inheritance pattern for Leigh syndrome varies depending on the specific mutation causing the disease in the individual. These mutations can be inherited as an autosomal recessive trait, an X-linked recessive trait, or as a mutation found within the mitochondrial DNA. In some cases of Leigh syndrome, no genetic cause can be identified.[1]

The autosomal recessive form of Leigh syndrome has been linked to mutations in one of several different genes. These genes cause specific enzyme deficiencies. All of these different genetic defects seem to have a common effect on the central nervous system, resulting in progressive neurological deterioration.[1] 

There is also evidence for an X-linked recessive form of Leigh's disease. This form has been linked to a specific genetic defect in a gene known as PDHA1 (E1-alpha subunit of the pyruvate dehydrogenase complex) that is located on the X chromosome.[1]

In some cases, Leigh syndrome may be inherited from the mother as a mutation found within the mitochondrial DNA (mtDNA). Mitochondria regulate the production of cellular energy and carry the genetic blueprints for this process within their own unique DNA. All human mtDNA comes from the mother. An affected mother will pass the traits to all of her children, but only the daughters will pass the mutation(s) onto the next generation. The specific mtDNA defect that may be responsible for some cases of Leigh syndrome is associated with a gene known as MT-ATP6. These cases are sometimes referred to as maternally inherited Leigh syndrome (MILS).[1]
Last updated: 10/6/2011

  1. Leigh's disease. National Organization for Rare Disorders (NORD). 2009; Accessed 10/6/2011.