Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder
begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh's disease
can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of
Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and
motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures.
As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis,
which can lead to impairment of respiratory and kidney function.
In Leigh’s disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements. The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions.
There is also a form of Leigh’s disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.
The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also
be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness
in treating lactic acidosis. In individuals who have the X-linked form of Leigh’s disease, a high-fat, low-carbohydrate diet
may be recommended.
The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease.
The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose,
treat, and prevent them.
Epilepsy Foundation 8301 Professional Place Landover, MD 20785-7223 postmaster@efa.org http://www.epilepsyfoundation.org Tel: 301-459-3700 800-EFA-1000 (332-1000) Fax: 301-577-2684 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
United Mitochondrial Disease Foundation 8085 Saltsburg Road Suite 201 Pittsburgh, PA 15239 info@umdf.org http://www.umdf.org Tel: 412-793-8077 Fax: 412-793-6477 |
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National Institute of Neurological Disorders and Stroke
National Institutes of Health
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Last updated October 08, 2008