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Pathway Description
Argininemia
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Argininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid, and uracil in urine. Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures.
References
Argininemia References
Prasad AN, Breen JC, Ampola MG, Rosman NP: Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J Child Neurol. 1997 Aug;12(5):301-9. doi: 10.1177/088307389701200502.
Pubmed: 9378897
Iyer RK, Yoo PK, Kern RM, Rozengurt N, Tsoa R, O'Brien WE, Yu H, Grody WW, Cederbaum SD: Mouse model for human arginase deficiency. Mol Cell Biol. 2002 Jul;22(13):4491-8.
Pubmed: 12052859
Urea Cycle References
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
Ishiguro M, Suzuki M, Takio K, Matsuzawa T, Titani K: Complete amino acid sequence of rat liver cytosolic alanine aminotransferase. Biochemistry. 1991 Jun 18;30(24):6048-53. doi: 10.1021/bi00238a031.
Pubmed: 2043642
Chung-Bok MI, Vincent N, Jhala U, Watford M: Rat hepatic glutaminase: identification of the full coding sequence and characterization of a functional promoter. Biochem J. 1997 May 15;324 ( Pt 1):193-200. doi: 10.1042/bj3240193.
Pubmed: 9164856
Smith EM, Watford M: Molecular cloning of a cDNA for rat hepatic glutaminase. Sequence similarity to kidney-type glutaminase. J Biol Chem. 1990 Jun 25;265(18):10631-6.
Pubmed: 2191954
Amuro N, Ooki K, Ito A, Goto Y, Okazaki T: Nucleotide sequence of rat liver glutamate dehydrogenase cDNA. Nucleic Acids Res. 1989 Mar 25;17(6):2356. doi: 10.1093/nar/17.6.2356.
Pubmed: 2704625
Das AT, Moerer P, Charles R, Moorman AF, Lamers WH: Nucleotide sequence of rat liver glutamate dehydrogenase cDNA. Nucleic Acids Res. 1989 Mar 25;17(6):2355. doi: 10.1093/nar/17.6.2355.
Pubmed: 2704624
Nyunoya H, Broglie KE, Widgren EE, Lusty CJ: Characterization and derivation of the gene coding for mitochondrial carbamyl phosphate synthetase I of rat. J Biol Chem. 1985 Aug 5;260(16):9346-56.
Pubmed: 2991241
Lagace M, Howell BW, Burak R, Lusty CJ, Shore GC: Rat carbamyl-phosphate synthetase I gene. Promoter sequence and tissue-specific transcriptional regulation in vitro. J Biol Chem. 1987 Aug 5;262(22):10415-8.
Pubmed: 3038878
Pekkala S, Martinez AI, Barcelona B, Gallego J, Bendala E, Yefimenko I, Rubio V, Cervera J: Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase. Biochem J. 2009 Nov 11;424(2):211-20. doi: 10.1042/BJ20090888.
Pubmed: 19754428
Mattingly JR Jr, Rodriguez-Berrocal FJ, Gordon J, Iriarte A, Martinez-Carrion M: Molecular cloning and in vivo expression of a precursor to rat mitochondrial aspartate aminotransferase. Biochem Biophys Res Commun. 1987 Dec 31;149(3):859-65. doi: 10.1016/0006-291x(87)90487-6.
Pubmed: 3322287
Juang HH, Costello LC, Franklin RB: Androgen modulation of multiple transcription start sites of the mitochondrial aspartate aminotransferase gene in rat prostate. J Biol Chem. 1995 May 26;270(21):12629-34. doi: 10.1074/jbc.270.21.12629.
Pubmed: 7759512
Takiguchi M, Miura S, Mori M, Tatibana M, Nagata S, Kaziro Y: Molecular cloning and nucleotide sequence of cDNA for rat ornithine carbamoyltransferase precursor. Proc Natl Acad Sci U S A. 1984 Dec;81(23):7412-6. doi: 10.1073/pnas.81.23.7412.
Pubmed: 6095294
Takiguchi M, Murakami T, Miura S, Mori M: Structure of the rat ornithine carbamoyltransferase gene, a large, X chromosome-linked gene with an atypical promoter. Proc Natl Acad Sci U S A. 1987 Sep;84(17):6136-40. doi: 10.1073/pnas.84.17.6136.
Pubmed: 3476935
Kraus JP, Hodges PE, Williamson CL, Horwich AL, Kalousek F, Williams KR, Rosenberg LE: A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites. Nucleic Acids Res. 1985 Feb 11;13(3):943-52. doi: 10.1093/nar/13.3.943.
Pubmed: 3839075
Kawamoto S, Amaya Y, Murakami K, Tokunaga F, Iwanaga S, Kobayashi K, Saheki T, Kimura S, Mori M: Complete nucleotide sequence of cDNA and deduced amino acid sequence of rat liver arginase. J Biol Chem. 1987 May 5;262(13):6280-3.
Pubmed: 3571256
Ohtake A, Takiguchi M, Shigeto Y, Amaya Y, Kawamoto S, Mori M: Structural organization of the gene for rat liver-type arginase. J Biol Chem. 1988 Feb 15;263(5):2245-9.
Pubmed: 2892837
Amaya Y, Matsubasa T, Takiguchi M, Kobayashi K, Saheki T, Kawamoto S, Mori M: Amino acid sequence of rat argininosuccinate lyase deduced from cDNA. J Biochem. 1988 Jan;103(1):177-81. doi: 10.1093/oxfordjournals.jbchem.a122227.
Pubmed: 2834354
Matsubasa T, Takiguchi M, Amaya Y, Matsuda I, Mori M: Structure of the rat argininosuccinate lyase gene: close similarity to chicken delta-crystallin genes. Proc Natl Acad Sci U S A. 1989 Jan;86(2):592-6. doi: 10.1073/pnas.86.2.592.
Pubmed: 2789519
Kawamoto S, Kaneko T, Mizuki N, Ohsuga A, Fukushima J, Amaya Y, Mori M, Okuda K: Molecular cloning and nucleotide sequence of rat brain argininosuccinate lyase cDNA with an extremely long 5'-untranslated sequence: evidence for the identity of the brain and liver enzymes. Brain Res Mol Brain Res. 1989 May;5(3):235-41. doi: 10.1016/0169-328x(89)90040-5.
Pubmed: 2725197
Surh LC, Morris SM, O'Brien WE, Beaudet AL: Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase. Nucleic Acids Res. 1988 Oct 11;16(19):9352. doi: 10.1093/nar/16.19.9352.
Pubmed: 3174461
Guerreiro JR, Lameu C, Oliveira EF, Klitzke CF, Melo RL, Linares E, Augusto O, Fox JW, Lebrun I, Serrano SM, Camargo AC: Argininosuccinate synthetase is a functional target for a snake venom anti-hypertensive peptide: role in arginine and nitric oxide production. J Biol Chem. 2009 Jul 24;284(30):20022-33. doi: 10.1074/jbc.M109.021089. Epub 2009 Jun 2.
Pubmed: 19491403
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 SMP0000357
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