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Disorder of fatty acid oxidation and ketogenesis

MedGen UID:
1843280
•Concept ID:
C5681071
•
Disease or Syndrome
Synonym: disorder of fatty acid oxidation and ketogenesis
 
Monarch Initiative: MONDO:0017713
Orphanet: ORPHA309115

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of fatty acid oxidation and ketogenesis

Professional guidelines

PubMed

Acetylcholinesterase Inhibitor Donepezil Effects on Plasma β-Hydroxybutyrate Levels in the Treatment of Alzheimer's Disease.
Wan L, Lu J, Fu J, Huang J, Yang Q, Xin B, Chen L, Huo Y, Zhong Y, Guo C
Curr Alzheimer Res 2018;15(10):917-927. doi: 10.2174/1567205015666180601091818. PMID: 29852870

Recent clinical studies

Etiology

Multi-omics of a pre-clinical model of diabetic cardiomyopathy reveals increased fatty acid supply impacts mitochondrial metabolic selectivity.
Li DK, Smith LE, Rookyard AW, Lingam SJ, Koay YC, McEwen HP, Twigg SM, Don AS, O'Sullivan JF, Cordwell SJ, White MY
J Mol Cell Cardiol 2022 Mar;164:92-109. Epub 2021 Nov 24 doi: 10.1016/j.yjmcc.2021.11.009. PMID: 34826416
Metabolism as Disease Tolerance: Implications for Sepsis-Associated Acute Kidney Injury.
Huen SC
Nephron 2022;146(3):291-294. Epub 2021 Jun 23 doi: 10.1159/000516877. PMID: 34161955Free PMC Article
Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias.
Vamecq J, Papegay B, Nuyens V, Boogaerts J, Leo O, Kruys V
Biochimie 2020 Jan;168:53-82. Epub 2019 Oct 15 doi: 10.1016/j.biochi.2019.10.004. PMID: 31626852
Hyperketonemia and ketosis increase the risk of complications in type 1 diabetes.
Kanikarla-Marie P, Jain SK
Free Radic Biol Med 2016 Jun;95:268-77. Epub 2016 Mar 29 doi: 10.1016/j.freeradbiomed.2016.03.020. PMID: 27036365Free PMC Article
Plasma lipoproteins and regulation of hepatic metabolism of fatty acids in altered thyroid states.
Heimberg M, Olubadewo JO, Wilcox HG
Endocr Rev 1985 Fall;6(4):590-607. doi: 10.1210/edrv-6-4-590. PMID: 3908084

Diagnosis

MLX plays a key role in lipid and glucose metabolism in humans: Evidence from in vitro and in vivo studies.
Nagarajan SR, Livingstone EJ, Monfeuga T, Lewis LC, Ali SHL, Chandran A, Dearlove DJ, Neville MJ, Chen L, Maroteau C, Ruby MA, Hodson L
Metabolism 2023 Jul;144:155563. Epub 2023 Apr 21 doi: 10.1016/j.metabol.2023.155563. PMID: 37088121Free PMC Article
ChREBP-Mediated Regulation of Lipid Metabolism: Involvement of the Gut Microbiota, Liver, and Adipose Tissue.
Iizuka K, Takao K, Yabe D
Front Endocrinol (Lausanne) 2020;11:587189. Epub 2020 Dec 3 doi: 10.3389/fendo.2020.587189. PMID: 33343508Free PMC Article
Fibroblast growth factor 21 as an emerging metabolic regulator: clinical perspectives.
Woo YC, Xu A, Wang Y, Lam KS
Clin Endocrinol (Oxf) 2013 Apr;78(4):489-96. doi: 10.1111/cen.12095. PMID: 23134073
Hypoglycaemia related to inherited metabolic diseases in adults.
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC
Orphanet J Rare Dis 2012 May 15;7:26. doi: 10.1186/1750-1172-7-26. PMID: 22587661Free PMC Article
Chemical diagnosis of inherited defects of fatty acid metabolism and ketogenesis.
Duran M, Wadman SK
Enzyme 1987;38(1-4):115-23. doi: 10.1159/000469197. PMID: 3326728

Therapy

Ketogenesis acts as an endogenous protective programme to restrain inflammatory macrophage activation during acute pancreatitis.
Zhang L, Shi J, Du D, Niu N, Liu S, Yang X, Lu P, Shen X, Shi N, Yao L, Zhang R, Hu G, Lu G, Zhu Q, Zeng T, Liu T, Xia Q, Huang W, Xue J
EBioMedicine 2022 Apr;78:103959. Epub 2022 Mar 25 doi: 10.1016/j.ebiom.2022.103959. PMID: 35339899Free PMC Article
Oral nitrite restores age-dependent phenotypes in eNOS-null mice.
Tenopoulou M, Doulias PT, Nakamoto K, Berrios K, Zura G, Li C, Faust M, Yakovishina V, Evans P, Tan L, Bennett MJ, Snyder NW, Quinn WJ 3rd, Baur JA, Atochin DN, Huang PL, Ischiropoulos H
JCI Insight 2018 Aug 23;3(16) doi: 10.1172/jci.insight.122156. PMID: 30135317Free PMC Article
Dendritic peptide bolaamphiphiles for siRNA delivery to primary adipocytes.
Eldredge AC, Johnson ME, Cao Y, Zhang L, Zhao C, Liu Z, Yang Q, Guan Z
Biomaterials 2018 Sep;178:458-466. Epub 2018 Apr 16 doi: 10.1016/j.biomaterials.2018.04.024. PMID: 29705001Free PMC Article
Fatty acids and their therapeutic potential in neurological disorders.
Lei E, Vacy K, Boon WC
Neurochem Int 2016 May;95:75-84. Epub 2016 Mar 3 doi: 10.1016/j.neuint.2016.02.014. PMID: 26939763
Carnitine deficiency disorders in children.
Stanley CA
Ann N Y Acad Sci 2004 Nov;1033:42-51. doi: 10.1196/annals.1320.004. PMID: 15591002

Prognosis

Multi-omics of a pre-clinical model of diabetic cardiomyopathy reveals increased fatty acid supply impacts mitochondrial metabolic selectivity.
Li DK, Smith LE, Rookyard AW, Lingam SJ, Koay YC, McEwen HP, Twigg SM, Don AS, O'Sullivan JF, Cordwell SJ, White MY
J Mol Cell Cardiol 2022 Mar;164:92-109. Epub 2021 Nov 24 doi: 10.1016/j.yjmcc.2021.11.009. PMID: 34826416
Medium-chain plasma acylcarnitines, ketone levels, cognition, and gray matter volumes in healthy elderly, mildly cognitively impaired, or Alzheimer's disease subjects.
Ciavardelli D, Piras F, Consalvo A, Rossi C, Zucchelli M, Di Ilio C, Frazzini V, Caltagirone C, Spalletta G, Sensi SL
Neurobiol Aging 2016 Jul;43:1-12. Epub 2016 Mar 15 doi: 10.1016/j.neurobiolaging.2016.03.005. PMID: 27255810
Diabetic ketoacidosis and hyperosmolar hyperglycemic state.
Gouni-Berthold I, Krone W
Med Klin (Munich) 2006 Mar 22;101 Suppl 1:100-5. PMID: 16802531
AMP-activated protein kinase, a metabolic master switch: possible roles in type 2 diabetes.
Winder WW, Hardie DG
Am J Physiol 1999 Jul;277(1):E1-10. doi: 10.1152/ajpendo.1999.277.1.E1. PMID: 10409121

Clinical prediction guides

Relationship between serum β-hydroxybutyrate and hepatic fatty acid oxidation in individuals with obesity and NAFLD.
Moore MP, Shryack G, Alessi I, Wieschhaus N, Meers GM, Johnson SA, Wheeler AA, Ibdah JA, Parks EJ, Rector RS
Am J Physiol Endocrinol Metab 2024 Apr 1;326(4):E493-E502. Epub 2024 Feb 21 doi: 10.1152/ajpendo.00336.2023. PMID: 38381399
Persistent fasting lipogenesis links impaired ketogenesis with citrate synthesis in humans with nonalcoholic fatty liver.
Fu X, Fletcher JA, Deja S, Inigo-Vollmer M, Burgess SC, Browning JD
J Clin Invest 2023 May 1;133(9) doi: 10.1172/JCI167442. PMID: 36928190Free PMC Article
Ketogenesis acts as an endogenous protective programme to restrain inflammatory macrophage activation during acute pancreatitis.
Zhang L, Shi J, Du D, Niu N, Liu S, Yang X, Lu P, Shen X, Shi N, Yao L, Zhang R, Hu G, Lu G, Zhu Q, Zeng T, Liu T, Xia Q, Huang W, Xue J
EBioMedicine 2022 Apr;78:103959. Epub 2022 Mar 25 doi: 10.1016/j.ebiom.2022.103959. PMID: 35339899Free PMC Article
The Role of l-Carnitine in Mitochondria, Prevention of Metabolic Inflexibility and Disease Initiation.
Virmani MA, Cirulli M
Int J Mol Sci 2022 Feb 28;23(5) doi: 10.3390/ijms23052717. PMID: 35269860Free PMC Article
Multi-omics of a pre-clinical model of diabetic cardiomyopathy reveals increased fatty acid supply impacts mitochondrial metabolic selectivity.
Li DK, Smith LE, Rookyard AW, Lingam SJ, Koay YC, McEwen HP, Twigg SM, Don AS, O'Sullivan JF, Cordwell SJ, White MY
J Mol Cell Cardiol 2022 Mar;164:92-109. Epub 2021 Nov 24 doi: 10.1016/j.yjmcc.2021.11.009. PMID: 34826416

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