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Pathway Description
Congenital Bile Acid Synthesis Defect Type II
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-11-24
Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes the bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one. Chenodeoxycholic acid and cholic acid are decreased in plasma and urine. Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
References
Congenital Bile Acid Synthesis Defect Type II References
[OMIM: Entry 235555](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235555)
[Uniprot: P51857](http://www.uniprot.org/uniprot/P51857)
Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT: Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut. 2003 Oct;52(10):1494-9.
Pubmed: 12970144
Setchell KD, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF: Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J Clin Invest. 1988 Dec;82(6):2148-57. doi: 10.1172/JCI113837.
Pubmed: 3198770
Sumazaki R, Nakamura N, Shoda J, Kurosawa T, Tohma M: Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency. Lancet. 1997 Feb 1;349(9048):329.
Pubmed: 9024384
[NIH](https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-2)
Bile Acid Biosynthesis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Lodish, H. et al. Molecular cell biology. (2004) New York: W.H Freeman.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Chiang JY: Bile acid metabolism and signaling. Compr Physiol. 2013 Jul;3(3):1191-212. doi: 10.1002/cphy.c120023.
Pubmed: 23897684
Allan D, Lohnes D: Cloning and developmental expression of mouse aldehyde reductase (AKR1A4). Mech Dev. 2000 Jun;94(1-2):271-5.
Pubmed: 10842086
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Pubmed: 16141072
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. doi: 10.1101/gr.2596504.
Pubmed: 15489334
Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP: A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89. doi: 10.1016/j.cell.2010.12.001.
Pubmed: 21183079
Berger J, Truppe C, Neumann H, Forss-Petter S: A novel relative of the very-long-chain acyl-CoA synthetase and fatty acid transporter protein genes with a distinct expression pattern. Biochem Biophys Res Commun. 1998 Jun 18;247(2):255-60. doi: 10.1006/bbrc.1998.8770.
Pubmed: 9642112
Hirsch D, Stahl A, Lodish HF: A family of fatty acid transporters conserved from mycobacterium to man. Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8625-9. doi: 10.1073/pnas.95.15.8625.
Pubmed: 9671728
Kotti TJ, Savolainen K, Helander HM, Yagi A, Novikov DK, Kalkkinen N, Conzelmann E, Hiltunen JK, Schmitz W: In mouse alpha -methylacyl-CoA racemase, the same gene product is simultaneously located in mitochondria and peroxisomes. J Biol Chem. 2000 Jul 7;275(27):20887-95. doi: 10.1074/jbc.M002067200.
Pubmed: 10770938
Schmitz W, Helander HM, Hiltunen JK, Conzelmann E: Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases. Biochem J. 1997 Sep 15;326 ( Pt 3):883-9. doi: 10.1042/bj3260883.
Pubmed: 9307041
Park J, Chen Y, Tishkoff DX, Peng C, Tan M, Dai L, Xie Z, Zhang Y, Zwaans BM, Skinner ME, Lombard DB, Zhao Y: SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways. Mol Cell. 2013 Jun 27;50(6):919-30. doi: 10.1016/j.molcel.2013.06.001.
Pubmed: 23806337
Normand T, Husen B, Leenders F, Pelczar H, Baert JL, Begue A, Flourens AC, Adamski J, de Launoit Y: Molecular characterization of mouse 17 beta-hydroxysteroid dehydrogenase IV. J Steroid Biochem Mol Biol. 1995 Dec;55(5-6):541-8.
Pubmed: 8547180
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