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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
Vitamin B6 status and interferon-γ-mediated immune activation in primary hyperparathyroidism.
Christensen MH, Pedersen EK, Nordbø Y, Varhaug JE, Midttun Ø, Ueland PM, Nygård OK, Mellgren G, Lien EA
J Intern Med 2012 Dec;272(6):583-91. Epub 2012 Aug 5 doi: 10.1111/j.1365-2796.2012.02570.x. PMID: 22757621
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
Circulating levels of allopregnanolone, a neuroactive steroid, and leptin during treatment with valproic acid in children with epilepsy.
Grosso S, Luisi S, Mostardini R, Matera M, Barlocco EG, Casarosa E, Balestri P, Petraglia F
Neuroendocrinology 2011;93(3):159-64. Epub 2010 Oct 27 doi: 10.1159/000321664. PMID: 20980729

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
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
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes.
Valle D, Goodman SI, Applegarth DA, Shih VE, Phang JM
J Clin Invest 1976 Sep;58(3):598-603. doi: 10.1172/JCI108506. PMID: 956388Free PMC Article

Therapy

Infection-associated Immune Perturbations Resolve 1 Year Following Treatment for Loa loa.
Herrick JA, Makiya MA, Holland-Thomas N, Klion AD, Nutman TB
Clin Infect Dis 2021 Mar 1;72(5):789-796. doi: 10.1093/cid/ciaa137. PMID: 32055862Free PMC Article
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
Circulating levels of allopregnanolone, a neuroactive steroid, and leptin during treatment with valproic acid in children with epilepsy.
Grosso S, Luisi S, Mostardini R, Matera M, Barlocco EG, Casarosa E, Balestri P, Petraglia F
Neuroendocrinology 2011;93(3):159-64. Epub 2010 Oct 27 doi: 10.1159/000321664. PMID: 20980729
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
Plasma and urinary soluble adhesion molecule expression is increased during first documented acute pyelonephritis.
Gbadegesin RA, Cotton SA, Coupes BM, Awan A, Brenchley PE, Webb NJ
Arch Dis Child 2002 Mar;86(3):218-21. doi: 10.1136/adc.86.3.218. PMID: 11861252Free PMC Article

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
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
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 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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