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Pathway Description
2-Aminoadipic 2-Oxoadipic Aciduria
Mus musculus
Disease Pathway
2-Aminoadipic 2-oxoadipic aciduria is a disorder of lysine metabolism caused by a defective DHTKD1 gene. DHTKD1 is predicted to code for a component of a supercomplex similar to the 2-oxoglutarate dehydrogenase complex (OGDHc) which catalyzes the conversion of 2-oxoadipate into glutaryl-CoA. This disease is characterized by a large accumulation of 2-oxoadipate and 2-hydroxyadipate in the urine. Symptoms of the disease include mild to severe intellectual disability, developmental delay, ataxia, muscular hypotonia, and epilepsy. However, most cases are asymptomatic.
References
2-Aminoadipic 2-Oxoadipic Aciduria References
Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kolker S: DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet. 2012 Dec 7;91(6):1082-7. doi: 10.1016/j.ajhg.2012.10.006. Epub 2012 Nov 8.
Pubmed: 23141293
Biagosch C, Ediga RD, Hensler SV, Faerberboeck M, Kuehn R, Wurst W, Meitinger T, Kolker S, Sauer S, Prokisch H: Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2220-2228. doi: 10.1016/j.bbadis.2017.05.018. Epub 2017 May 22.
Pubmed: 28545977
Lysine Degradation 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.
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 PW000696
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