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Pathway Description
2-Ketoglutarate Dehydrogenase Complex Deficiency
Rattus norvegicus
Disease Pathway
2-Ketoglutarate dehydrogenase complex deficiency, also known as alpha-ketoglutarate dehydrogenase deficiency or oxoglutaric aciduria, is an autosomal recessive disorder of the Krebs cycle caused by a defective oxoglutarate dehydrogenase complex (OGDC). OGDC catalyzes the conversion of 2-ketoglutarate into succinyl-CoA. This disorder is characterized by a large accumulation of 2-ketoglutarate in the urine. Symptoms of the disorder include opisthotonus, ataxia, developmental delay, and seizures.
References
2-Ketoglutarate Dehydrogenase Complex Deficiency References
Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr. 1992 Aug;121(2):255-8.
Pubmed: 1640293
Kiss G, Konrad C, Doczi J, Starkov AA, Kawamata H, Manfredi G, Zhang SF, Gibson GE, Beal MF, Adam-Vizi V, Chinopoulos C: The negative impact of alpha-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation. FASEB J. 2013 Jun;27(6):2392-406. doi: 10.1096/fj.12-220202. Epub 2013 Mar 8.
Pubmed: 23475850
Citric Acid Cycle References
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000525
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