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Pathway Description
Leigh Syndrome
Homo sapiens
Disease Pathway
Leigh Syndrome, also called Leigh Disease or infantile subacute necrotizing encephalopathy, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that is caused by a mutation of any one of 75 different genes. Disruptions of the complexes I or IV are the most common reasons for Leigh syndrome. Complex IV is crucial in the electron transfer steps of oxidative phosphorylation, which is needed to provide energy to the mitochondria. This disorder is characterized by a large accumulation of lactate in the body. Symptoms of the disorder include diarrhea, dysphagia and vomiting. There is no cure for Leigh syndrome and the loss motor skills degenerate rapidly. It is estimated that Leigh syndrome affects 1 in 40,000 individuals.
References
Leigh Syndrome References
[Wikipedia: Leigh%27s disease](http://en.wikipedia.org/wiki/Leigh%27s_disease)
[OMIM: Entry 256000](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256000)
[Uniprot: P08559](http://www.uniprot.org/uniprot/P08559)
[Uniprot: P00846](http://www.uniprot.org/uniprot/P00846)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.116 Heilbronn: SPS Verlagsgesellschaft
Dahl HH: Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet. 1998 Dec;63(6):1594-7. doi: 10.1086/302169.
Pubmed: 9837811
David RB, Gomez MR, Okazaki H: Necrotizing encephalomyelopathy (Leigh). Dev Med Child Neurol. 1970 Aug;12(4):436-45.
Pubmed: 5457539
DiMauro S, De Vivo DC: Genetic heterogeneity in Leigh syndrome. Ann Neurol. 1996 Jul;40(1):5-7. doi: 10.1002/ana.410400104.
Pubmed: 8687192
Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJ, Schmidt KA, Packman S: Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics. 1987 Mar;79(3):370-3.
Pubmed: 3103091
Lake NJ, Bird MJ, Isohanni P, Paetau A: Leigh syndrome: neuropathology and pathogenesis. J Neuropathol Exp Neurol. 2015 Jun;74(6):482-92. doi: 10.1097/NEN.0000000000000195.
Pubmed: 25978847
Pyruvate Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Gray LR, Tompkins SC, Taylor EB: Regulation of pyruvate metabolism and human disease. Cell Mol Life Sci. 2014 Jul;71(14):2577-604. doi: 10.1007/s00018-013-1539-2. Epub 2013 Dec 21.
Pubmed: 24363178
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