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Disorder of gluconeogenesis

MedGen UID:
832342
•Concept ID:
CN227592
•
Disease or Syndrome
Synonym: Gluconeogenesis disorder
 
Monarch Initiative: MONDO:0019225
Orphanet: ORPHA79177

Definition

An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis. [from MONDO]

Professional guidelines

PubMed

Use of Continuous Glucose Monitoring in the Assessment and Management of Patients With Diabetes and Chronic Kidney Disease.
Ling J, Ng JKC, Chan JCN, Chow E
Front Endocrinol (Lausanne) 2022;13:869899. Epub 2022 Apr 22 doi: 10.3389/fendo.2022.869899. PMID: 35528010Free PMC Article
Loss-of-Function Genetic Screening Identifies Aldolase A as an Essential Driver for Liver Cancer Cell Growth Under Hypoxia.
Niu Y, Lin Z, Wan A, Sun L, Yan S, Liang H, Zhan S, Chen D, Bu X, Liu P, Chen C, He W, Lu X, Wan G
Hepatology 2021 Sep;74(3):1461-1479. doi: 10.1002/hep.31846. PMID: 33813748Free PMC Article
Glycemic Monitoring and Management in Advanced Chronic Kidney Disease.
Galindo RJ, Beck RW, Scioscia MF, Umpierrez GE, Tuttle KR
Endocr Rev 2020 Oct 1;41(5):756-74. doi: 10.1210/endrev/bnaa017. PMID: 32455432Free PMC Article

Recent clinical studies

Etiology

Glycemic Monitoring and Management in Advanced Chronic Kidney Disease.
Galindo RJ, Beck RW, Scioscia MF, Umpierrez GE, Tuttle KR
Endocr Rev 2020 Oct 1;41(5):756-74. doi: 10.1210/endrev/bnaa017. PMID: 32455432Free PMC Article
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Hepatic Complications of Anorexia Nervosa.
Rosen E, Bakshi N, Watters A, Rosen HR, Mehler PS
Dig Dis Sci 2017 Nov;62(11):2977-2981. Epub 2017 Sep 20 doi: 10.1007/s10620-017-4766-9. PMID: 28932925
Fructose Consumption, Lipogenesis, and Non-Alcoholic Fatty Liver Disease.
Ter Horst KW, Serlie MJ
Nutrients 2017 Sep 6;9(9) doi: 10.3390/nu9090981. PMID: 28878197Free PMC Article
Diabetes mellitus and alcohol.
van de Wiel A
Diabetes Metab Res Rev 2004 Jul-Aug;20(4):263-7. doi: 10.1002/dmrr.492. PMID: 15250029

Diagnosis

Glycemic Monitoring and Management in Advanced Chronic Kidney Disease.
Galindo RJ, Beck RW, Scioscia MF, Umpierrez GE, Tuttle KR
Endocr Rev 2020 Oct 1;41(5):756-74. doi: 10.1210/endrev/bnaa017. PMID: 32455432Free PMC Article
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Metabolites as regulators of insulin sensitivity and metabolism.
Yang Q, Vijayakumar A, Kahn BB
Nat Rev Mol Cell Biol 2018 Oct;19(10):654-672. doi: 10.1038/s41580-018-0044-8. PMID: 30104701Free PMC Article
Hepatic Complications of Anorexia Nervosa.
Rosen E, Bakshi N, Watters A, Rosen HR, Mehler PS
Dig Dis Sci 2017 Nov;62(11):2977-2981. Epub 2017 Sep 20 doi: 10.1007/s10620-017-4766-9. PMID: 28932925
Thyroid hormone regulation of metabolism.
Mullur R, Liu YY, Brent GA
Physiol Rev 2014 Apr;94(2):355-82. doi: 10.1152/physrev.00030.2013. PMID: 24692351Free PMC Article

Therapy

Berberine in Non-Alcoholic Fatty Liver Disease-A Review.
Koperska A, Wesołek A, Moszak M, Szulińska M
Nutrients 2022 Aug 23;14(17) doi: 10.3390/nu14173459. PMID: 36079717Free PMC Article
Fructose Production and Metabolism in the Kidney.
Nakagawa T, Johnson RJ, Andres-Hernando A, Roncal-Jimenez C, Sanchez-Lozada LG, Tolan DR, Lanaspa MA
J Am Soc Nephrol 2020 May;31(5):898-906. Epub 2020 Apr 6 doi: 10.1681/ASN.2019101015. PMID: 32253274Free PMC Article
Metformin: Mechanisms in Human Obesity and Weight Loss.
Yerevanian A, Soukas AA
Curr Obes Rep 2019 Jun;8(2):156-164. doi: 10.1007/s13679-019-00335-3. PMID: 30874963Free PMC Article
Gluconeogenesis in Cancer: Function and Regulation of PEPCK, FBPase, and G6Pase.
Wang Z, Dong C
Trends Cancer 2019 Jan;5(1):30-45. Epub 2018 Dec 20 doi: 10.1016/j.trecan.2018.11.003. PMID: 30616754
Mechanisms of antidiabetic effects of flavonoid rutin.
Ghorbani A
Biomed Pharmacother 2017 Dec;96:305-312. Epub 2017 Oct 7 doi: 10.1016/j.biopha.2017.10.001. PMID: 29017142

Prognosis

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Decreased Renal Gluconeogenesis Is a Hallmark of Chronic Kidney Disease.
Verissimo T, Faivre A, Rinaldi A, Lindenmeyer M, Delitsikou V, Veyrat-Durebex C, Heckenmeyer C, Fernandez M, Berchtold L, Dalga D, Cohen C, Naesens M, Ricksten SE, Martin PY, Pugin J, Merlier F, Haupt K, Rutkowski JM, Moll S, Cippà PE, Legouis D, de Seigneux S
J Am Soc Nephrol 2022 Apr;33(4):810-827. Epub 2022 Mar 10 doi: 10.1681/ASN.2021050680. PMID: 35273087Free PMC Article
Renal gluconeogenesis: an underestimated role of the kidney in systemic glucose metabolism.
Legouis D, Faivre A, Cippà PE, de Seigneux S
Nephrol Dial Transplant 2022 Jul 26;37(8):1417-1425. doi: 10.1093/ndt/gfaa302. PMID: 33247734
The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis.
Xu D, Wang Z, Xia Y, Shao F, Xia W, Wei Y, Li X, Qian X, Lee JH, Du L, Zheng Y, Lv G, Leu JS, Wang H, Xing D, Liang T, Hung MC, Lu Z
Nature 2020 Apr;580(7804):530-535. Epub 2020 Apr 8 doi: 10.1038/s41586-020-2183-2. PMID: 32322062
Hepatic Complications of Anorexia Nervosa.
Rosen E, Bakshi N, Watters A, Rosen HR, Mehler PS
Dig Dis Sci 2017 Nov;62(11):2977-2981. Epub 2017 Sep 20 doi: 10.1007/s10620-017-4766-9. PMID: 28932925

Clinical prediction guides

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Lactylation, a Novel Metabolic Reprogramming Code: Current Status and Prospects.
Chen AN, Luo Y, Yang YH, Fu JT, Geng XM, Shi JP, Yang J
Front Immunol 2021;12:688910. Epub 2021 Jun 10 doi: 10.3389/fimmu.2021.688910. PMID: 34177945Free PMC Article
Glycemic Monitoring and Management in Advanced Chronic Kidney Disease.
Galindo RJ, Beck RW, Scioscia MF, Umpierrez GE, Tuttle KR
Endocr Rev 2020 Oct 1;41(5):756-74. doi: 10.1210/endrev/bnaa017. PMID: 32455432Free PMC Article
Gluconeogenesis in Cancer: Function and Regulation of PEPCK, FBPase, and G6Pase.
Wang Z, Dong C
Trends Cancer 2019 Jan;5(1):30-45. Epub 2018 Dec 20 doi: 10.1016/j.trecan.2018.11.003. PMID: 30616754
Hepatic Complications of Anorexia Nervosa.
Rosen E, Bakshi N, Watters A, Rosen HR, Mehler PS
Dig Dis Sci 2017 Nov;62(11):2977-2981. Epub 2017 Sep 20 doi: 10.1007/s10620-017-4766-9. PMID: 28932925

Recent systematic reviews

A Systematic Review of Orthosiphon stamineus Benth. in the Treatment of Diabetes and Its Complications.
Wang Q, Wang J, Li N, Liu J, Zhou J, Zhuang P, Chen H
Molecules 2022 Jan 10;27(2) doi: 10.3390/molecules27020444. PMID: 35056765Free PMC Article
Factitious Graves' Disease Due to Biotin Immunoassay Interference-A Case and Review of the Literature.
Elston MS, Sehgal S, Du Toit S, Yarndley T, Conaglen JV
J Clin Endocrinol Metab 2016 Sep;101(9):3251-5. Epub 2016 Jun 30 doi: 10.1210/jc.2016-1971. PMID: 27362288

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