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Pathway Description
Pyruvate Dehydrogenase Complex Deficiency
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Pyruvate dehydrogenase complex deficiency results from a mutation in the E1-alpha polypeptide gene (PDHA1). PDHA1 encodes the pyruvate dehydrogenase complex (PDC) a critical complex that converts pyruvate from glycolysis to acetyl CoA for the citric acid cycle. This conversion step links glycolysis and the citric acid cycle. A defect in this complex causes accumulation of lactate and pyruvate in the blood; lactate and pyruvic acid in the spinal fluid; and lactate in the urine. Symptoms include lactic and metabolic acidosis, motor retardation, dystonia, growth and mental retardation, and respiratory distress.
References
Pyruvate Dehydrogenase Complex Deficiency References
Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl HH: The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. Ann N Y Acad Sci. 1989;573:360-8.
Pubmed: 2517465
Pyruvate Metabolism References
Lehn DA, Moran SM, MacDonald MJ: The sequence of the rat pyruvate carboxylase-encoding cDNA. Gene. 1995 Nov 20;165(2):331-2. doi: 10.1016/0378-1119(95)00557-m.
Pubmed: 8522203
Jitrapakdee S, Booker GW, Cassady AI, Wallace JC: Cloning, sequencing and expression of rat liver pyruvate carboxylase. Biochem J. 1996 Jun 1;316 ( Pt 2):631-7. doi: 10.1042/bj3160631.
Pubmed: 8687410
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Pubmed: 15489334
Matrisian LM, Rautmann G, Magun BE, Breathnach R: Epidermal growth factor or serum stimulation of rat fibroblasts induces an elevation in mRNA levels for lactate dehydrogenase and other glycolytic enzymes. Nucleic Acids Res. 1985 Feb 11;13(3):711-26. doi: 10.1093/nar/13.3.711.
Pubmed: 3873645
Williams KR, Reddigari S, Patel GL: Identification of a nucleic acid helix-destabilizing protein from rat liver as lactate dehydrogenase-5. Proc Natl Acad Sci U S A. 1985 Aug;82(16):5260-4. doi: 10.1073/pnas.82.16.5260.
Pubmed: 2991914
Noguchi T, Yamada K, Inoue H, Matsuda T, Tanaka T: The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters. J Biol Chem. 1987 Oct 15;262(29):14366-71.
Pubmed: 3654663
Inoue H, Noguchi T, Tanaka T: Complete amino acid sequence of rat L-type pyruvate kinase deduced from the cDNA sequence. Eur J Biochem. 1986 Jan 15;154(2):465-9. doi: 10.1111/j.1432-1033.1986.tb09420.x.
Pubmed: 3002799
Lone YC, Simon MP, Kahn A, Marie J: Complete nucleotide and deduced amino acid sequences of rat L-type pyruvate kinase. FEBS Lett. 1986 Jan 20;195(1-2):97-100. doi: 10.1016/0014-5793(86)80138-7.
Pubmed: 3080337
Beale EG, Chrapkiewicz NB, Scoble HA, Metz RJ, Quick DP, Noble RL, Donelson JE, Biemann K, Granner DK: Rat hepatic cytosolic phosphoenolpyruvate carboxykinase (GTP). Structures of the protein, messenger RNA, and gene. J Biol Chem. 1985 Sep 5;260(19):10748-60.
Pubmed: 2993287
Lewis CT, Seyer JM, Carlson GM: Cysteine 288: an essential hyperreactive thiol of cytosolic phosphoenolpyruvate carboxykinase (GTP). J Biol Chem. 1989 Jan 5;264(1):27-33.
Pubmed: 2909519
Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Pubmed: 22673903
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Pubmed: 15057822
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Pubmed: 9434774
Achouri Y, Rider MH, Schaftingen EV, Robbi M: Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase. Biochem J. 1997 Apr 15;323 ( Pt 2):365-70. doi: 10.1042/bj3230365.
Pubmed: 9163325
Carper D, Nishimura C, Shinohara T, Dietzchold B, Wistow G, Craft C, Kador P, Kinoshita JH: Aldose reductase and p-crystallin belong to the same protein superfamily as aldehyde reductase. FEBS Lett. 1987 Aug 10;220(1):209-13. doi: 10.1016/0014-5793(87)80905-5.
Pubmed: 3111886
Graham C, Szpirer C, Levan G, Carper D: Characterization of the aldose reductase-encoding gene family in rat. Gene. 1991 Nov 15;107(2):259-67. doi: 10.1016/0378-1119(91)90326-7.
Pubmed: 1748296
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 SMP0000212
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