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Increased circulating free fatty acid level

MedGen UID:
908805
Concept ID:
C4280773
Finding
HPO: HP:0030781

Definition

A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. [from HPO]

Conditions with this feature

DK1-congenital disorder of glycosylation
MedGen UID:
332072
Concept ID:
C1835849
Disease or Syndrome
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.

Professional guidelines

PubMed

Vavlukis M, Kedev S
Curr Pharm Des 2018;24(4):427-441. doi: 10.2174/1381612824666171227215708. PMID: 29283060
Ramesh D, D'Agata A, Starkweather AR, Young EE
Clin J Pain 2018 Jan;34(1):8-14. doi: 10.1097/AJP.0000000000000508. PMID: 28481838Free PMC Article
Murthy KR
J Indian Med Assoc 2013 Apr;111(4):254-9. PMID: 24475558

Recent clinical studies

Etiology

D'Erasmo L, Di Martino M, Neufeld T, Fraum TJ, Kang CJ, Burks KH, Di Costanzo A, Minicocci I, Bini S, Maranghi M, Pigna G, Labbadia G, Zheng J, Fierro D, Montali A, Ceci F, Catalano C, Davidson NO, Lucisano G, Nicolucci A, Arca M, Stitziel NO
Circulation 2023 Nov 7;148(19):1479-1489. Epub 2023 Sep 15 doi: 10.1161/CIRCULATIONAHA.123.065866. PMID: 37712257Free PMC Article
Annevelink CE, Sapp PA, Petersen KS, Shearer GC, Kris-Etherton PM
J Clin Lipidol 2023 Sep-Oct;17(5):577-586. Epub 2023 Jul 28 doi: 10.1016/j.jacl.2023.07.005. PMID: 37666689Free PMC Article
Lemaitre M, Christin-Maitre S, Kerlan V
Ann Endocrinol (Paris) 2023 Apr;84(2):308-315. Epub 2023 Jan 7 doi: 10.1016/j.ando.2022.11.004. PMID: 36623807
Mallick R, Duttaroy AK
Mol Cell Biochem 2022 Jan;477(1):15-38. Epub 2021 Sep 16 doi: 10.1007/s11010-021-04260-9. PMID: 34529222Free PMC Article
Engin A
Adv Exp Med Biol 2017;960:53-80. doi: 10.1007/978-3-319-48382-5_3. PMID: 28585195

Diagnosis

Lemaitre M, Christin-Maitre S, Kerlan V
Ann Endocrinol (Paris) 2023 Apr;84(2):308-315. Epub 2023 Jan 7 doi: 10.1016/j.ando.2022.11.004. PMID: 36623807
Salehidoost R, Korbonits M
J Neuroendocrinol 2022 Aug;34(8):e13143. Epub 2022 Aug 18 doi: 10.1111/jne.13143. PMID: 35980242
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D
Circulation 2021 Nov 23;144(21):1714-1731. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.121.053575. PMID: 34672721Free PMC Article
Ko SH, Kim HS
Nutrients 2020 Jan 13;12(1) doi: 10.3390/nu12010202. PMID: 31941004Free PMC Article
Janani C, Ranjitha Kumari BD
Diabetes Metab Syndr 2015 Jan-Mar;9(1):46-50. Epub 2014 Oct 13 doi: 10.1016/j.dsx.2014.09.015. PMID: 25450819

Therapy

D'Erasmo L, Di Martino M, Neufeld T, Fraum TJ, Kang CJ, Burks KH, Di Costanzo A, Minicocci I, Bini S, Maranghi M, Pigna G, Labbadia G, Zheng J, Fierro D, Montali A, Ceci F, Catalano C, Davidson NO, Lucisano G, Nicolucci A, Arca M, Stitziel NO
Circulation 2023 Nov 7;148(19):1479-1489. Epub 2023 Sep 15 doi: 10.1161/CIRCULATIONAHA.123.065866. PMID: 37712257Free PMC Article
Vered S, Beiser AS, Sulimani L, Sznitman S, Gonzales MM, Aparicio HJ, DeCarli C, Scott MR, Ghosh S, Lewitus GM, Meiri D, Seshadri S, Weinstein G
Alzheimers Res Ther 2023 Sep 12;15(1):154. doi: 10.1186/s13195-023-01301-x. PMID: 37700370Free PMC Article
Jin A, Kan Z, Tan Q, Shao J, Han Q, Chang Y, An N, Yi M
J Int Soc Sports Nutr 2023 Dec;20(1):2254741. doi: 10.1080/15502783.2023.2254741. PMID: 37674290Free PMC Article
John Chapman M, Preston Mason R
Pharmacol Ther 2022 Dec;240:108237. Epub 2022 Jun 27 doi: 10.1016/j.pharmthera.2022.108237. PMID: 35772589
Janani C, Ranjitha Kumari BD
Diabetes Metab Syndr 2015 Jan-Mar;9(1):46-50. Epub 2014 Oct 13 doi: 10.1016/j.dsx.2014.09.015. PMID: 25450819

Prognosis

Vela S, Guerra A, Farrell G, Trivedi S, Chaffin H, Rood C, Singh R, Kostenko S, Chang YH, Snozek C, Patel K, Khatua B, Singh VP
Gastroenterology 2021 Nov;161(5):1513-1525. Epub 2021 Jul 23 doi: 10.1053/j.gastro.2021.07.029. PMID: 34303660Free PMC Article
Pellegrini CN, Buzkova P, Lichtenstein AH, Matthan NR, Ix JH, Siscovick DS, Heckbert SR, Tracy RP, Mukamal KJ, Djoussé L, Kizer JR
Heart 2021 Nov;107(22):1805-1812. Epub 2021 Jan 22 doi: 10.1136/heartjnl-2020-317929. PMID: 33483356Free PMC Article
Rada P, González-Rodríguez Á, García-Monzón C, Valverde ÁM
Cell Death Dis 2020 Sep 25;11(9):802. doi: 10.1038/s41419-020-03003-w. PMID: 32978374Free PMC Article
Guaita-Esteruelas S, Saavedra-García P, Bosquet A, Borràs J, Girona J, Amiliano K, Rodríguez-Balada M, Heras M, Masana L, Gumà J
Oncologist 2017 Nov;22(11):1309-1315. Epub 2017 Jul 12 doi: 10.1634/theoncologist.2016-0483. PMID: 28701570Free PMC Article
Tselepis AF, Rizzo M, Goudevenos IA
Curr Pharm Des 2011 Nov;17(33):3656-61. doi: 10.2174/138161211798220936. PMID: 22074435

Clinical prediction guides

D'Erasmo L, Di Martino M, Neufeld T, Fraum TJ, Kang CJ, Burks KH, Di Costanzo A, Minicocci I, Bini S, Maranghi M, Pigna G, Labbadia G, Zheng J, Fierro D, Montali A, Ceci F, Catalano C, Davidson NO, Lucisano G, Nicolucci A, Arca M, Stitziel NO
Circulation 2023 Nov 7;148(19):1479-1489. Epub 2023 Sep 15 doi: 10.1161/CIRCULATIONAHA.123.065866. PMID: 37712257Free PMC Article
Vered S, Beiser AS, Sulimani L, Sznitman S, Gonzales MM, Aparicio HJ, DeCarli C, Scott MR, Ghosh S, Lewitus GM, Meiri D, Seshadri S, Weinstein G
Alzheimers Res Ther 2023 Sep 12;15(1):154. doi: 10.1186/s13195-023-01301-x. PMID: 37700370Free PMC Article
González-Domínguez R, Castellano-Escuder P, Lefèvre-Arbogast S, Low DY, Du Preez A, Ruigrok SR, Lee H, Helmer C, Pallàs M, Urpi-Sarda M, Sánchez-Pla A, Korosi A, Lucassen PJ, Aigner L, Manach C, Thuret S, Samieri C, Andres-Lacueva C
Alzheimers Res Ther 2022 Jan 3;14(1):1. doi: 10.1186/s13195-021-00948-8. PMID: 34980257Free PMC Article
Vela S, Guerra A, Farrell G, Trivedi S, Chaffin H, Rood C, Singh R, Kostenko S, Chang YH, Snozek C, Patel K, Khatua B, Singh VP
Gastroenterology 2021 Nov;161(5):1513-1525. Epub 2021 Jul 23 doi: 10.1053/j.gastro.2021.07.029. PMID: 34303660Free PMC Article
Chueire VB, Muscelli E
Arch Endocrinol Metab 2021 Nov 1;65(1):24-31. Epub 2020 Dec 15 doi: 10.20945/2359-3997000000313. PMID: 33320449Free PMC Article

Recent systematic reviews

Gabriel FC, Fantuzzi G
Nutr Res 2019 Dec;72:18-35. Epub 2019 Aug 17 doi: 10.1016/j.nutres.2019.08.006. PMID: 31669116

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