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Pathway Description
Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Glycogen storage disease type 1A (GSD1A), or von Gierke disease, is caused by a defect in the G6PC gene which codes for Glucose-6-phosphatase. Glucose-6-phosphatase hydrolyzes glucose-6-phosphate to glucose and is responsible for the regulation of blood glucose level. A defect in this enzyme results in accumulation of glycogen in affected tissues, like liver and kidney; decreased glucose level; and accumulation of lactate. Glycogen storage disease type 1A causes clinically significant end-organ disease with significant morbidity. Usually it presents in childhood. Symptoms include seizures, irritability, pallor, hypotonia, tremors, loss of consciousness, apnea and hepatomegaly. There is no cure for glycogen storage disease type 1A. Diet therapy can help to prevent hypoglycemia and reduce the symptoms. Liver transplantation may be indicated in cases of hepatic malignancy.
References
Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease References
Shah KK, O'Dell SD: Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. J Hum Nutr Diet. 2013 Aug;26(4):329-39. doi: 10.1111/jhn.12030. Epub 2013 Jan 7.
Pubmed: 23294025
Salganik SV, Weinstein DA, Shupe TD, Salganik M, Pintilie DG, Petersen BE: A detailed characterization of the adult mouse model of glycogen storage disease Ia. Lab Invest. 2009 Sep;89(9):1032-42. doi: 10.1038/labinvest.2009.64. Epub 2009 Jul 6.
Pubmed: 19581879
Gluconeogenesis References
Haber BA, Chin S, Chuang E, Buikhuisen W, Naji A, Taub R: High levels of glucose-6-phosphatase gene and protein expression reflect an adaptive response in proliferating liver and diabetes. J Clin Invest. 1995 Feb;95(2):832-41. doi: 10.1172/JCI117733.
Pubmed: 7860767
Lange AJ, Argaud D, el-Maghrabi MR, Pan W, Maitra SR, Pilkis SJ: Isolation of a cDNA for the catalytic subunit of rat liver glucose-6-phosphatase: regulation of gene expression in FAO hepatoma cells by insulin, dexamethasone and cAMP. Biochem Biophys Res Commun. 1994 May 30;201(1):302-9. doi: 10.1006/bbrc.1994.1702.
Pubmed: 8198588
Shingu R, Nakajima H, Horikawa Y, Hamaguchi T, Yamasaki T, Miyagawa J, Namba M, Hanafusa T, Matsuzawa Y: Expression and distribution of glucose-6-phosphatase catalytic subunit messenger RNA and its changes in the diabetic state. Res Commun Mol Pathol Pharmacol. 1996 Jul;93(1):13-24.
Pubmed: 8865366
Rivera AA, Elton TS, Dey NB, Bounelis P, Marchase RB: Isolation and expression of a rat liver cDNA encoding phosphoglucomutase. Gene. 1993 Nov 15;133(2):261-6. doi: 10.1016/0378-1119(93)90649-n.
Pubmed: 8224913
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
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
Maurya DK, Sundaram CS, Bhargava P: Proteome profile of the mature rat olfactory bulb. Proteomics. 2009 May;9(9):2593-9. doi: 10.1002/pmic.200800664.
Pubmed: 19343716
Thelen AP, Wilson JE: Complete amino acid sequence of the type II isozyme of rat hexokinase, deduced from the cloned cDNA: comparison with a hexokinase from novikoff ascites tumor. Arch Biochem Biophys. 1991 May 1;286(2):645-51. doi: 10.1016/0003-9861(91)90094-y.
Pubmed: 1897984
Ichihara J, Shinohara Y, Kogure K, Terada H: Nucleotide sequence of the 5'-flanking region of the rat type II hexokinase gene. Biochim Biophys Acta. 1995 Feb 21;1260(3):365-8. doi: 10.1016/0167-4781(94)00226-s.
Pubmed: 7873617
Mathupala SP, Rempel A, Pedersen PL: Glucose catabolism in cancer cells. Isolation, sequence, and activity of the promoter for type II hexokinase. J Biol Chem. 1995 Jul 14;270(28):16918-25. doi: 10.1074/jbc.270.28.16918.
Pubmed: 7622509
el-Maghrabi MR, Pilkis J, Marker AJ, Colosia AD, D'Angelo G, Fraser BA, Pilkis SJ: cDNA sequence of rat liver fructose-1,6-bisphosphatase and evidence for down-regulation of its mRNA by insulin. Proc Natl Acad Sci U S A. 1988 Nov;85(22):8430-4. doi: 10.1073/pnas.85.22.8430.
Pubmed: 2847161
el-Maghrabi MR, Lange AJ, Kummel L, Pilkis SJ: The rat fructose-1,6-bisphosphatase gene. Structure and regulation of expression. J Biol Chem. 1991 Feb 5;266(4):2115-20.
Pubmed: 1846613
Bertolotti R, Armbruster-Hilbert L, Okayama H: Liver fructose-1,6-bisphosphatase cDNA: trans-complementation of fission yeast and characterization of two human transcripts. Differentiation. 1995 Jul;59(1):51-60. doi: 10.1046/j.1432-0436.1995.5910051.x.
Pubmed: 7589895
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 SMP0000374
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