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Abnormal circulating carboxylic acid concentration

MedGen UID:
1684666
•Concept ID:
C5139039
•
Finding
Synonym: Abnormality of carboxylic acid metabolism
 
HPO: HP:0004354

Definition

Any deviation from the normal concentration of a carboxylic acid in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating carboxylic acid concentration

Professional guidelines

PubMed

Umbilical cord pH, blood gases, and lactate at birth: normal values, interpretation, and clinical utility.
Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Measuring non-polyaminated lipocalin-2 for cardiometabolic risk assessment.
Yang K, Deng HB, Man AWC, Song E, Zhang J, Luo C, Cheung BMY, Yuen KY, Jensen PS, Irmukhamedov A, Elie AGIM, Vanhoutte PM, Xu A, De Mey JGR, Wang Y
ESC Heart Fail 2017 Nov;4(4):563-575. Epub 2017 Jun 27 doi: 10.1002/ehf2.12183. PMID: 29154418Free PMC Article
Ibuprofen lysine for the prevention and treatment of patent ductus arteriosus.
Pai VB, Sakadjian A, Puthoff TD
Pharmacotherapy 2008 Sep;28(9):1162-82. doi: 10.1592/phco.28.9.1162. PMID: 18752387

Recent clinical studies

Etiology

Umbilical cord pH, blood gases, and lactate at birth: normal values, interpretation, and clinical utility.
Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Ileal bile acid transporter inhibition as an anticholestatic therapeutic target in biliary atresia and other cholestatic disorders.
Karpen SJ, Kelly D, Mack C, Stein P
Hepatol Int 2020 Sep;14(5):677-689. Epub 2020 Jul 11 doi: 10.1007/s12072-020-10070-w. PMID: 32653991
Measuring non-polyaminated lipocalin-2 for cardiometabolic risk assessment.
Yang K, Deng HB, Man AWC, Song E, Zhang J, Luo C, Cheung BMY, Yuen KY, Jensen PS, Irmukhamedov A, Elie AGIM, Vanhoutte PM, Xu A, De Mey JGR, Wang Y
ESC Heart Fail 2017 Nov;4(4):563-575. Epub 2017 Jun 27 doi: 10.1002/ehf2.12183. PMID: 29154418Free PMC Article
Update on massive transfusion.
Pham HP, Shaz BH
Br J Anaesth 2013 Dec;111 Suppl 1:i71-82. doi: 10.1093/bja/aet376. PMID: 24335401
Ambrisentan for the treatment of pulmonary arterial hypertension: results of the ambrisentan in pulmonary arterial hypertension, randomized, double-blind, placebo-controlled, multicenter, efficacy (ARIES) study 1 and 2.
Galiè N, Olschewski H, Oudiz RJ, Torres F, Frost A, Ghofrani HA, Badesch DB, McGoon MD, McLaughlin VV, Roecker EB, Gerber MJ, Dufton C, Wiens BL, Rubin LJ; Ambrisentan in Pulmonary Arterial Hypertension, Randomized, Double-Blind, Placebo-Controlled, Multicenter, Efficacy Studies (ARIES) Group
Circulation 2008 Jun 10;117(23):3010-9. Epub 2008 May 27 doi: 10.1161/CIRCULATIONAHA.107.742510. PMID: 18506008

Diagnosis

Umbilical cord pH, blood gases, and lactate at birth: normal values, interpretation, and clinical utility.
Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Development and validation of a UPLC-MS/MS method for the simultaneous determination of gamma-aminobutyric acid and glutamic acid in human plasma.
de Bie TH, Witkamp RF, Jongsma MA, Balvers MGJ
J Chromatogr B Analyt Technol Biomed Life Sci 2021 Feb 1;1164:122519. Epub 2020 Dec 28 doi: 10.1016/j.jchromb.2020.122519. PMID: 33454439
Ileal bile acid transporter inhibition as an anticholestatic therapeutic target in biliary atresia and other cholestatic disorders.
Karpen SJ, Kelly D, Mack C, Stein P
Hepatol Int 2020 Sep;14(5):677-689. Epub 2020 Jul 11 doi: 10.1007/s12072-020-10070-w. PMID: 32653991
Highly specific monitoring and imaging of endogenous and exogenous cysteine in living cells.
Song X, Yang Y, Ru J, Wang Y, Qiu F, Feng Y, Zhang G, Liu W
Talanta 2019 Nov 1;204:561-568. Epub 2019 Jun 8 doi: 10.1016/j.talanta.2019.06.020. PMID: 31357334
Measuring non-polyaminated lipocalin-2 for cardiometabolic risk assessment.
Yang K, Deng HB, Man AWC, Song E, Zhang J, Luo C, Cheung BMY, Yuen KY, Jensen PS, Irmukhamedov A, Elie AGIM, Vanhoutte PM, Xu A, De Mey JGR, Wang Y
ESC Heart Fail 2017 Nov;4(4):563-575. Epub 2017 Jun 27 doi: 10.1002/ehf2.12183. PMID: 29154418Free PMC Article

Therapy

Ileal bile acid transporter inhibition as an anticholestatic therapeutic target in biliary atresia and other cholestatic disorders.
Karpen SJ, Kelly D, Mack C, Stein P
Hepatol Int 2020 Sep;14(5):677-689. Epub 2020 Jul 11 doi: 10.1007/s12072-020-10070-w. PMID: 32653991
Update on massive transfusion.
Pham HP, Shaz BH
Br J Anaesth 2013 Dec;111 Suppl 1:i71-82. doi: 10.1093/bja/aet376. PMID: 24335401
Ambrisentan for the treatment of pulmonary arterial hypertension: results of the ambrisentan in pulmonary arterial hypertension, randomized, double-blind, placebo-controlled, multicenter, efficacy (ARIES) study 1 and 2.
Galiè N, Olschewski H, Oudiz RJ, Torres F, Frost A, Ghofrani HA, Badesch DB, McGoon MD, McLaughlin VV, Roecker EB, Gerber MJ, Dufton C, Wiens BL, Rubin LJ; Ambrisentan in Pulmonary Arterial Hypertension, Randomized, Double-Blind, Placebo-Controlled, Multicenter, Efficacy Studies (ARIES) Group
Circulation 2008 Jun 10;117(23):3010-9. Epub 2008 May 27 doi: 10.1161/CIRCULATIONAHA.107.742510. PMID: 18506008
Anabolic effects of fluoride on bone.
Pak CY, Zerwekh JE, Antich P
Trends Endocrinol Metab 1995 Sep;6(7):229-34. doi: 10.1016/1043-2760(95)00111-t. PMID: 11540313
Dichloroacetate.
Stacpoole PW, Greene YJ
Diabetes Care 1992 Jun;15(6):785-91. doi: 10.2337/diacare.15.6.785. PMID: 1600837

Prognosis

Multi-omics study reveals associations among neurotransmitter, extracellular vesicle-derived microRNA and psychiatric comorbidities during heroin and methamphetamine withdrawal.
Chen F, Xu Y, Shi K, Zhang Z, Xie Z, Wu H, Ma Y, Zhou Y, Chen C, Yang J, Wang Y, Robbins TW, Wang K, Yu J
Biomed Pharmacother 2022 Nov;155:113685. Epub 2022 Sep 19 doi: 10.1016/j.biopha.2022.113685. PMID: 36137407
Ileal bile acid transporter inhibition as an anticholestatic therapeutic target in biliary atresia and other cholestatic disorders.
Karpen SJ, Kelly D, Mack C, Stein P
Hepatol Int 2020 Sep;14(5):677-689. Epub 2020 Jul 11 doi: 10.1007/s12072-020-10070-w. PMID: 32653991
Measuring non-polyaminated lipocalin-2 for cardiometabolic risk assessment.
Yang K, Deng HB, Man AWC, Song E, Zhang J, Luo C, Cheung BMY, Yuen KY, Jensen PS, Irmukhamedov A, Elie AGIM, Vanhoutte PM, Xu A, De Mey JGR, Wang Y
ESC Heart Fail 2017 Nov;4(4):563-575. Epub 2017 Jun 27 doi: 10.1002/ehf2.12183. PMID: 29154418Free PMC Article
Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease.
Medrano-Engay B, Irun P, Gervas-Arruga J, Andrade-Campos M, Andreu V, Alfonso P, Pocovi M, Giraldo P
Blood Cells Mol Dis 2014 Dec;53(4):171-5. Epub 2014 Aug 18 doi: 10.1016/j.bcmd.2014.07.007. PMID: 25153906
Ambrisentan for the treatment of pulmonary arterial hypertension: results of the ambrisentan in pulmonary arterial hypertension, randomized, double-blind, placebo-controlled, multicenter, efficacy (ARIES) study 1 and 2.
Galiè N, Olschewski H, Oudiz RJ, Torres F, Frost A, Ghofrani HA, Badesch DB, McGoon MD, McLaughlin VV, Roecker EB, Gerber MJ, Dufton C, Wiens BL, Rubin LJ; Ambrisentan in Pulmonary Arterial Hypertension, Randomized, Double-Blind, Placebo-Controlled, Multicenter, Efficacy Studies (ARIES) Group
Circulation 2008 Jun 10;117(23):3010-9. Epub 2008 May 27 doi: 10.1161/CIRCULATIONAHA.107.742510. PMID: 18506008

Clinical prediction guides

Umbilical cord pH, blood gases, and lactate at birth: normal values, interpretation, and clinical utility.
Olofsson P
Am J Obstet Gynecol 2023 May;228(5S):S1222-S1240. Epub 2023 Mar 19 doi: 10.1016/j.ajog.2022.07.001. PMID: 37164495
Development and validation of a UPLC-MS/MS method for the simultaneous determination of gamma-aminobutyric acid and glutamic acid in human plasma.
de Bie TH, Witkamp RF, Jongsma MA, Balvers MGJ
J Chromatogr B Analyt Technol Biomed Life Sci 2021 Feb 1;1164:122519. Epub 2020 Dec 28 doi: 10.1016/j.jchromb.2020.122519. PMID: 33454439
Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies.
Oussalah A, Levy J, Filhine-Trésarrieu P, Namour F, Guéant JL
Am J Clin Nutr 2017 Oct;106(4):1142-1156. Epub 2017 Aug 16 doi: 10.3945/ajcn.117.156349. PMID: 28814397Free PMC Article
Ibuprofen lysine for the prevention and treatment of patent ductus arteriosus.
Pai VB, Sakadjian A, Puthoff TD
Pharmacotherapy 2008 Sep;28(9):1162-82. doi: 10.1592/phco.28.9.1162. PMID: 18752387
Ambrisentan for the treatment of pulmonary arterial hypertension: results of the ambrisentan in pulmonary arterial hypertension, randomized, double-blind, placebo-controlled, multicenter, efficacy (ARIES) study 1 and 2.
Galiè N, Olschewski H, Oudiz RJ, Torres F, Frost A, Ghofrani HA, Badesch DB, McGoon MD, McLaughlin VV, Roecker EB, Gerber MJ, Dufton C, Wiens BL, Rubin LJ; Ambrisentan in Pulmonary Arterial Hypertension, Randomized, Double-Blind, Placebo-Controlled, Multicenter, Efficacy Studies (ARIES) Group
Circulation 2008 Jun 10;117(23):3010-9. Epub 2008 May 27 doi: 10.1161/CIRCULATIONAHA.107.742510. PMID: 18506008

Recent systematic reviews

Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies.
Oussalah A, Levy J, Filhine-Trésarrieu P, Namour F, Guéant JL
Am J Clin Nutr 2017 Oct;106(4):1142-1156. Epub 2017 Aug 16 doi: 10.3945/ajcn.117.156349. PMID: 28814397Free PMC Article

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