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Leigh Syndrome

Abstract

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NORD is very grateful to Peter W. Stacpoole, PhD, MD, Professor of Medicine, Biochemistry and Molecular Biology, College of Medicine, University of Florida, for assistance in the preparation of this report.

Synonyms of Leigh Syndrome

  • classical Leigh syndrome
  • Leigh necrotizing encephalopathy
  • Leigh's disease
  • necrotizing encephalomyelopathy of Leigh's
  • SNE
  • subacute necrotizing encephalopathy

Disorder Subdivisions

  • adult-onset subacute necrotizing encephalomyelopathy
  • infantile necrotizing encephalopathy
  • X-linked infantile nectrotizing encephalopathy

General Discussion

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As Leigh syndrome progresses, symptoms may also include generalized weakness, lack of muscle tone (hypotonia), and episodes of lactic acidosis, which may lead to impairment of respiratory and kidney function.

Several different genetically determined enzyme defects can cause the syndrome, initially described over 60 years ago. Most individuals with Leigh syndrome have defects of mitochondrial energy production, such as deficiency of an enzyme of the mitochondrial respiratory chain complex or the pyruvate dehydrogenase complex. In most cases, Leigh syndrome is inherited as an autosomal recessive trait. However, X-linked recessive and mitochondrial inheritance are additional modes of transmission.

Leigh Syndrome Resources

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