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Disorder of ketone body transport

MedGen UID:
1842931
•Concept ID:
C5681184
•
Disease or Syndrome
Synonym: Disorder of keton body transport
 
Orphanet: ORPHA438072

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of ketone body transport

Professional guidelines

PubMed

NADPH and Mitochondrial Quality Control as Targets for a Circadian-Based Fasting and Exercise Therapy for the Treatment of Parkinson's Disease.
Curtis WM, Seeds WA, Mattson MP, Bradshaw PC
Cells 2022 Aug 4;11(15) doi: 10.3390/cells11152416. PMID: 35954260Free PMC Article
Nutritional ketosis as an intervention to relieve astrogliosis: Possible therapeutic applications in the treatment of neurodegenerative and neuroprogressive disorders.
Morris G, Maes M, Berk M, Carvalho AF, Puri BK
Eur Psychiatry 2020 Jan 31;63(1):e8. doi: 10.1192/j.eurpsy.2019.13. PMID: 32093791Free PMC Article
Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases.
Leone A, De Amicis R, Lessa C, Tagliabue A, Trentani C, Ferraris C, Battezzati A, Veggiotti P, Foppiani A, Ravella S, Bertoli S
Nutrients 2019 May 17;11(5) doi: 10.3390/nu11051104. PMID: 31108981Free PMC Article

Recent clinical studies

Etiology

Effect of empagliflozin on ectopic fat stores and myocardial energetics in type 2 diabetes: the EMPACEF study.
Gaborit B, Ancel P, Abdullah AE, Maurice F, Abdesselam I, Calen A, Soghomonian A, Houssays M, Varlet I, Eisinger M, Lasbleiz A, Peiretti F, Bornet CE, Lefur Y, Pini L, Rapacchi S, Bernard M, Resseguier N, Darmon P, Kober F, Dutour A
Cardiovasc Diabetol 2021 Mar 1;20(1):57. doi: 10.1186/s12933-021-01237-2. PMID: 33648515Free PMC Article
Use of SGLT2 inhibitors in cardiovascular diseases: why, when and how?
Lu H, Meyer P, Hullin R
Swiss Med Wkly 2020 Aug 24;150:w20341. Epub 2020 Sep 1 doi: 10.4414/smw.2020.20341. PMID: 32920793
Mechanisms of Protective Effects of SGLT2 Inhibitors in Cardiovascular Disease and Renal Dysfunction.
Liu B, Wang Y, Zhang Y, Yan B
Curr Top Med Chem 2019;19(20):1818-1849. doi: 10.2174/1568026619666190828161409. PMID: 31456521
Renoprotective Effects of SGLT2 Inhibitors: Beyond Glucose Reabsorption Inhibition.
Tsimihodimos V, Filippatos TD, Filippas-Ntekouan S, Elisaf M
Curr Vasc Pharmacol 2017;15(2):96-102. doi: 10.2174/1570161114666161007163426. PMID: 27748201
SGLT2 Inhibitors May Predispose to Ketoacidosis.
Taylor SI, Blau JE, Rother KI
J Clin Endocrinol Metab 2015 Aug;100(8):2849-52. Epub 2015 Jun 18 doi: 10.1210/jc.2015-1884. PMID: 26086329Free PMC Article

Diagnosis

Eu- or hypoglycemic ketosis and ketoacidosis in children: a review.
Meoli M, Lava SAG, Bronz G, Goeggel-Simonetti B, Simonetti GD, Alberti I, Agostoni C, Bianchetti MG, Scoglio M, Vismara SA, Milani GP
Pediatr Nephrol 2024 Apr;39(4):1033-1040. Epub 2023 Aug 16 doi: 10.1007/s00467-023-06115-5. PMID: 37584686Free PMC Article
Increases in circulating levels of ketone bodies and cardiovascular protection with SGLT2 inhibitors: Is low-grade inflammation the neglected component?
Prattichizzo F, De Nigris V, Micheloni S, La Sala L, Ceriello A
Diabetes Obes Metab 2018 Nov;20(11):2515-2522. Epub 2018 Sep 6 doi: 10.1111/dom.13488. PMID: 30073768
Renoprotective Effects of SGLT2 Inhibitors: Beyond Glucose Reabsorption Inhibition.
Tsimihodimos V, Filippatos TD, Filippas-Ntekouan S, Elisaf M
Curr Vasc Pharmacol 2017;15(2):96-102. doi: 10.2174/1570161114666161007163426. PMID: 27748201
Ketone body metabolism and cardiovascular disease.
Cotter DG, Schugar RC, Crawford PA
Am J Physiol Heart Circ Physiol 2013 Apr 15;304(8):H1060-76. Epub 2013 Feb 8 doi: 10.1152/ajpheart.00646.2012. PMID: 23396451Free PMC Article
Disorders of the mitochondria.
Treem WR, Sokol RJ
Semin Liver Dis 1998;18(3):237-53. doi: 10.1055/s-2007-1007160. PMID: 9773424

Therapy

Molecular Mechanisms of Neuroprotection by Ketone Bodies and Ketogenic Diet in Cerebral Ischemia and Neurodegenerative Diseases.
Jang J, Kim SR, Lee JE, Lee S, Son HJ, Choe W, Yoon KS, Kim SS, Yeo EJ, Kang I
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010124. PMID: 38203294Free PMC Article
Effects of SGLT2 Inhibitors on Kidney and Cardiovascular Function.
Vallon V, Verma S
Annu Rev Physiol 2021 Feb 10;83:503-528. Epub 2020 Nov 16 doi: 10.1146/annurev-physiol-031620-095920. PMID: 33197224Free PMC Article
SGLT2 inhibitors: mechanisms of cardiovascular benefit beyond glycaemic control.
Cowie MR, Fisher M
Nat Rev Cardiol 2020 Dec;17(12):761-772. Epub 2020 Jul 14 doi: 10.1038/s41569-020-0406-8. PMID: 32665641
The neuropharmacology of butyrate: The bread and butter of the microbiota-gut-brain axis?
Stilling RM, van de Wouw M, Clarke G, Stanton C, Dinan TG, Cryan JF
Neurochem Int 2016 Oct;99:110-132. Epub 2016 Jun 23 doi: 10.1016/j.neuint.2016.06.011. PMID: 27346602
SGLT2 Inhibitors May Predispose to Ketoacidosis.
Taylor SI, Blau JE, Rother KI
J Clin Endocrinol Metab 2015 Aug;100(8):2849-52. Epub 2015 Jun 18 doi: 10.1210/jc.2015-1884. PMID: 26086329Free PMC Article

Prognosis

The LDL Receptor-Related Protein 1: Mechanisms and roles in promoting Aβ efflux transporter in Alzheimer's disease.
Li W, Chen C, Xu B, Chen J, Yang M, Gao L, Zhou J
Biochem Pharmacol 2025 Jan;231:116643. Epub 2024 Nov 20 doi: 10.1016/j.bcp.2024.116643. PMID: 39577706
Fasting Substrate Concentrations Predict Cardiovascular Outcomes in the CANagliflozin cardioVascular Assessment Study (CANVAS).
Ferrannini E, Baldi S, Scozzaro T, Tsimihodimos V, Tesfaye F, Shaw W, Rosenthal N, Figtree GA, Neal B, Mahaffey KW, Perkovic V, Hansen MK
Diabetes Care 2022 Aug 1;45(8):1893-1899. doi: 10.2337/dc21-2398. PMID: 35724306
Sodium-glucose cotransporter 2 inhibitors represent a paradigm shift in the prevention of heart failure in type 2 diabetes patients.
Kashiwagi A, Araki S, Maegawa H
J Diabetes Investig 2021 Jan;12(1):6-20. Epub 2020 Aug 5 doi: 10.1111/jdi.13329. PMID: 32563214Free PMC Article
Possible Clues for Brain Energy Translation via Endolysosomal Trafficking of APP-CTFs in Alzheimer's Disease.
Sivanesan S, Mundugaru R, Rajadas J
Oxid Med Cell Longev 2018;2018:2764831. Epub 2018 Oct 21 doi: 10.1155/2018/2764831. PMID: 30420907Free PMC Article
The SLC16 gene family - structure, role and regulation in health and disease.
Halestrap AP
Mol Aspects Med 2013 Apr-Jun;34(2-3):337-49. doi: 10.1016/j.mam.2012.05.003. PMID: 23506875

Clinical prediction guides

Effect of empagliflozin on ectopic fat stores and myocardial energetics in type 2 diabetes: the EMPACEF study.
Gaborit B, Ancel P, Abdullah AE, Maurice F, Abdesselam I, Calen A, Soghomonian A, Houssays M, Varlet I, Eisinger M, Lasbleiz A, Peiretti F, Bornet CE, Lefur Y, Pini L, Rapacchi S, Bernard M, Resseguier N, Darmon P, Kober F, Dutour A
Cardiovasc Diabetol 2021 Mar 1;20(1):57. doi: 10.1186/s12933-021-01237-2. PMID: 33648515Free PMC Article
Increases in circulating levels of ketone bodies and cardiovascular protection with SGLT2 inhibitors: Is low-grade inflammation the neglected component?
Prattichizzo F, De Nigris V, Micheloni S, La Sala L, Ceriello A
Diabetes Obes Metab 2018 Nov;20(11):2515-2522. Epub 2018 Sep 6 doi: 10.1111/dom.13488. PMID: 30073768
Renoprotective Effects of SGLT2 Inhibitors: Beyond Glucose Reabsorption Inhibition.
Tsimihodimos V, Filippatos TD, Filippas-Ntekouan S, Elisaf M
Curr Vasc Pharmacol 2017;15(2):96-102. doi: 10.2174/1570161114666161007163426. PMID: 27748201
Control of seizures by ketogenic diet-induced modulation of metabolic pathways.
Clanton RM, Wu G, Akabani G, Aramayo R
Amino Acids 2017 Jan;49(1):1-20. Epub 2016 Sep 28 doi: 10.1007/s00726-016-2336-7. PMID: 27683025
The SLC16 gene family - structure, role and regulation in health and disease.
Halestrap AP
Mol Aspects Med 2013 Apr-Jun;34(2-3):337-49. doi: 10.1016/j.mam.2012.05.003. PMID: 23506875

Recent systematic reviews

SGLT-2 inhibitors in Diabetic Kidney Disease: What Lies Behind their Renoprotective Properties?
Georgianos PI, Divani M, Eleftheriadis T, Mertens PR, Liakopoulos V
Curr Med Chem 2019;26(29):5564-5578. doi: 10.2174/0929867325666180524114033. PMID: 29792136

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