Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Leigh syndrome


Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

What treatment is available for Leigh syndrome?

No treatment has proven effective for all individuals with Leigh syndrome.

However, some types of nuclear gene-encoded Leigh-like syndrome are treatable including: 
  • Biotin-thiamine-responsive basal ganglia disease (BTBGD) (also known as thiamine transporter-2 deficiency) (mutation of SLC19A3) 
  • Biotinidase deficiency (BTD) 
  • Coenzyme Q10 biosynthesis defect (PDSS2).
Nuclear gene-encoded Leigh-like syndrome should be rapidly tested biochemically or genetically as indicated or, if this is not possible, trials of the relevant vitamins/cofactors should be done as soon as the diagnosis is considered. If a person is diagnosed with one of these syndromes, the treatment may be continued for life. Treatment may include high doses of thiamine, coenzyme-Q, or L-carnitine. Some studies have shown that patients with Leigh syndrome due to a deficiency in coenzyme Q may benefit the most from treatment with coenzyme-Q, resulting in almost complete recovery or significant improvement of neurological abnormalities.[1]

Other treatment may be symptomatic. For instance, sodium bicarbonate or sodium citrate may be prescribed to manage lactic acidosis or antiepileptic medication for seizures.[2]
Last updated: 3/10/2016

References
  1. Finsterer J. Leigh and Leigh-Like Syndrome in Children and Adults. Pediatr Neurol. 2008; http://www.ncbi.nlm.nih.gov/pubmed/18805359.
  2. Leigh's Disease Information Page. National Institute of Neurological Disorders and Stroke. December, 2011; http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Leigh syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.