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Pathway Description
Fructose-1,6-diphosphatase Deficiency
Homo sapiens
Disease Pathway
Fructose-1,6-bisphosphatase deficiency (FBP1D) is an autosomal recessive inborn error of metabolism (IEM) caused by a mutation in the FBP1 gene which encodes for fructose-1,6-bisphosphatase-1. This enzyme is responsible for catalyzing the conversion of fructose 1,6-bisophosphate into fructose 5-phosphate by removing a phosphate group from it as part of the gluconeogenesis pathway. FBP1D is characterized by hypoglycemia and acidosis after fasting, caused by the impairment of gluconeogenesis. Symptoms can also include hyperventilation. Treatment includes feeding more often with foods enriched with glucose, as well as avoiding foods high in fructose and sucrose, as well as avoiding fasting for longer than overnight. It is estimated that FBP1D affects between 1 in 350,000 and 1 in 900,000 individuals.
References
Fructose-1,6-diphosphatase Deficiency References
[Metagen: FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=128)
[OMIM: 229700](http://omim.org/entry/229700})
Eren E, Edgunlu T, Abuhandan M, Yetkin I: Novel fructose-1,6-bisphosphatase gene mutation in two siblings. DNA Cell Biol. 2013 Nov;32(11):635-9. doi: 10.1089/dna.2013.2119. Epub 2013 Sep 5.
Pubmed: 24007283
Buhrdel P, Bohme HJ, Didt L: Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Eur J Pediatr. 1990 May;149(8):574-6.
Pubmed: 2347355
Andrikopoulos S, Rosella G, Kaczmarczyk SJ, Zajac JD, Proietto J: Impaired regulation of hepatic fructose-1,6-biphosphatase in the New Zealand Obese mouse: an acquired defect. Metabolism. 1996 May;45(5):622-6.
Pubmed: 8622607
Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Qing Y, Li J, Shen Y, Wang J, Wang X: Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. Int J Mol Sci. 2017 Apr 18;18(4). pii: ijms18040857. doi: 10.3390/ijms18040857.
Pubmed: 28420223
Gluconeogenesis 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.
Puigserver P, Rhee J, Donovan J, Walkey CJ, Yoon JC, Oriente F, Kitamura Y, Altomonte J, Dong H, Accili D, Spiegelman BM: Insulin-regulated hepatic gluconeogenesis through FOXO1-PGC-1alpha interaction. Nature. 2003 May 29;423(6939):550-5. doi: 10.1038/nature01667. Epub 2003 May 18.
Pubmed: 12754525
Gray S, Wang B, Orihuela Y, Hong EG, Fisch S, Haldar S, Cline GW, Kim JK, Peroni OD, Kahn BB, Jain MK: Regulation of gluconeogenesis by Kruppel-like factor 15. Cell Metab. 2007 Apr;5(4):305-12. doi: 10.1016/j.cmet.2007.03.002.
Pubmed: 17403374
Rodgers JT, Lerin C, Haas W, Gygi SP, Spiegelman BM, Puigserver P: Nutrient control of glucose homeostasis through a complex of PGC-1alpha and SIRT1. Nature. 2005 Mar 3;434(7029):113-8. doi: 10.1038/nature03354.
Pubmed: 15744310
Jager S, Handschin C, St-Pierre J, Spiegelman BM: AMP-activated protein kinase (AMPK) action in skeletal muscle via direct phosphorylation of PGC-1alpha. Proc Natl Acad Sci U S A. 2007 Jul 17;104(29):12017-22. doi: 10.1073/pnas.0705070104. Epub 2007 Jul 3.
Pubmed: 17609368
Gerhart-Hines Z, Rodgers JT, Bare O, Lerin C, Kim SH, Mostoslavsky R, Alt FW, Wu Z, Puigserver P: Metabolic control of muscle mitochondrial function and fatty acid oxidation through SIRT1/PGC-1alpha. EMBO J. 2007 Apr 4;26(7):1913-23. doi: 10.1038/sj.emboj.7601633. Epub 2007 Mar 8.
Pubmed: 17347648
Rodgers JT, Lerin C, Gerhart-Hines Z, Puigserver P: Metabolic adaptations through the PGC-1 alpha and SIRT1 pathways. FEBS Lett. 2008 Jan 9;582(1):46-53. doi: 10.1016/j.febslet.2007.11.034. Epub 2007 Nov 26.
Pubmed: 18036349
Uldry M, Yang W, St-Pierre J, Lin J, Seale P, Spiegelman BM: Complementary action of the PGC-1 coactivators in mitochondrial biogenesis and brown fat differentiation. Cell Metab. 2006 May;3(5):333-41. doi: 10.1016/j.cmet.2006.04.002.
Pubmed: 16679291
Mazzucotelli A, Viguerie N, Tiraby C, Annicotte JS, Mairal A, Klimcakova E, Lepin E, Delmar P, Dejean S, Tavernier G, Lefort C, Hidalgo J, Pineau T, Fajas L, Clement K, Langin D: The transcriptional coactivator peroxisome proliferator activated receptor (PPAR)gamma coactivator-1 alpha and the nuclear receptor PPAR alpha control the expression of glycerol kinase and metabolism genes independently of PPAR gamma activation in human white adipocytes. Diabetes. 2007 Oct;56(10):2467-75. doi: 10.2337/db06-1465. Epub 2007 Jul 23.
Pubmed: 17646210
Kovarova J, Nagar R, Faria J, Ferguson MAJ, Barrett MP, Horn D: Gluconeogenesis using glycerol as a substrate in bloodstream-form Trypanosoma brucei. PLoS Pathog. 2018 Dec 27;14(12):e1007475. doi: 10.1371/journal.ppat.1007475. eCollection 2018 Dec.
Pubmed: 30589893
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