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Abnormal circulating metabolite concentration

MedGen UID:
1701080
•Concept ID:
C5139177
•
Finding
HPO: HP:0032180

Definition

An abnormal level of an analyte measured in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating metabolite 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
Twenty-four hour hormonal and metabolic profiles in uraemic patients before and during treatment with continuous ambulatory peritoneal dialysis.
Heaton A, Johnston DG, Haigh JW, Ward MK, Alberti KG, Kerr DN
Clin Sci (Lond) 1985 Oct;69(4):449-57. doi: 10.1042/cs0690449. PMID: 4042546

Recent clinical studies

Etiology

Nuclear Magnetic Resonance-Based Metabolomics and Risk of CKD.
Geng TT, Chen JX, Lu Q, Wang PL, Xia PF, Zhu K, Li Y, Guo KQ, Yang K, Liao YF, Zhou YF, Liu G, Pan A
Am J Kidney Dis 2024 Jan;83(1):9-17. Epub 2023 Sep 9 doi: 10.1053/j.ajkd.2023.05.014. PMID: 37678743
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
Genetic approaches to metabolic bone diseases.
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
11-Oxygenated C19 Steroids Are the Predominant Androgens in Polycystic Ovary Syndrome.
O'Reilly MW, Kempegowda P, Jenkinson C, Taylor AE, Quanson JL, Storbeck KH, Arlt W
J Clin Endocrinol Metab 2017 Mar 1;102(3):840-848. doi: 10.1210/jc.2016-3285. PMID: 27901631Free PMC Article
The role of sulfated steroid hormones in reproductive processes.
Geyer J, Bakhaus K, Bernhardt R, Blaschka C, Dezhkam Y, Fietz D, Grosser G, Hartmann K, Hartmann MF, Neunzig J, Papadopoulos D, Sánchez-Guijo A, Scheiner-Bobis G, Schuler G, Shihan M, Wrenzycki C, Wudy SA, Bergmann M
J Steroid Biochem Mol Biol 2017 Sep;172:207-221. Epub 2016 Jul 5 doi: 10.1016/j.jsbmb.2016.07.002. PMID: 27392637

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
Genetic approaches to metabolic bone diseases.
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.
Shackleton C, Malunowicz E
Steroids 2003 Oct;68(9):707-17. doi: 10.1016/s0039-128x(03)00115-6. PMID: 14625002
Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy.
Reyes H, Sjövall J
Ann Med 2000 Mar;32(2):94-106. doi: 10.3109/07853890009011758. PMID: 10766400
Imaging and epilepsy.
Duncan JS
Brain 1997 Feb;120 ( Pt 2):339-77. doi: 10.1093/brain/120.2.339. PMID: 9117380

Therapy

Metabolic Response to Everolimus in Patient-Derived Triple-Negative Breast Cancer Xenografts.
Euceda LR, Hill DK, Stokke E, Hatem R, El Botty R, Bièche I, Marangoni E, Bathen TF, Moestue SA
J Proteome Res 2017 May 5;16(5):1868-1879. Epub 2017 Apr 3 doi: 10.1021/acs.jproteome.6b00918. PMID: 28290700
Abnormal olanzapine toxicokinetic profiles--population pharmacokinetic analysis.
Tylutki Z, Jawień W, Ciszowski K, Wilimowska J, Anand JS
Toxicol Mech Methods 2015 Jan;25(1):1-12. Epub 2014 Oct 21 doi: 10.3109/15376516.2014.971137. PMID: 25264211
Vitamin E inadequacy in humans: causes and consequences.
Traber MG
Adv Nutr 2014 Sep;5(5):503-14. doi: 10.3945/an.114.006254. PMID: 25469382Free PMC Article
The role of protein kinase C activation and the vascular complications of diabetes.
Das Evcimen N, King GL
Pharmacol Res 2007 Jun;55(6):498-510. Epub 2007 May 5 doi: 10.1016/j.phrs.2007.04.016. PMID: 17574431
Pharmacology of antineoplastic agents in pregnancy.
Wiebe VJ, Sipila PE
Crit Rev Oncol Hematol 1994 Apr;16(2):75-112. doi: 10.1016/1040-8428(94)90043-4. PMID: 8068213

Prognosis

Trimethylamine oxide: a potential target for heart failure therapy.
Lv S, Wang Y, Zhang W, Shang H
Heart 2022 May 25;108(12):917-922. doi: 10.1136/heartjnl-2021-320054. PMID: 34611047
Genetic approaches to metabolic bone diseases.
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Metabolic Response to Everolimus in Patient-Derived Triple-Negative Breast Cancer Xenografts.
Euceda LR, Hill DK, Stokke E, Hatem R, El Botty R, Bièche I, Marangoni E, Bathen TF, Moestue SA
J Proteome Res 2017 May 5;16(5):1868-1879. Epub 2017 Apr 3 doi: 10.1021/acs.jproteome.6b00918. PMID: 28290700
Current and future applications of magnetic resonance imaging and spectroscopy of the brain in hepatic encephalopathy.
Grover VP, Dresner MA, Forton DM, Counsell S, Larkman DJ, Patel N, Thomas HC, Taylor-Robinson SD
World J Gastroenterol 2006 May 21;12(19):2969-78. doi: 10.3748/wjg.v12.i19.2969. PMID: 16718775Free PMC Article
Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy.
Reyes H, Sjövall J
Ann Med 2000 Mar;32(2):94-106. doi: 10.3109/07853890009011758. PMID: 10766400

Clinical prediction guides

Nuclear Magnetic Resonance-Based Metabolomics and Risk of CKD.
Geng TT, Chen JX, Lu Q, Wang PL, Xia PF, Zhu K, Li Y, Guo KQ, Yang K, Liao YF, Zhou YF, Liu G, Pan A
Am J Kidney Dis 2024 Jan;83(1):9-17. Epub 2023 Sep 9 doi: 10.1053/j.ajkd.2023.05.014. PMID: 37678743
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
Turning over our fat stores: the key to metabolic health Blaxter Award Lecture 2018.
Frayn KN
Proc Nutr Soc 2019 Aug;78(3):398-406. Epub 2018 Oct 29 doi: 10.1017/S0029665118002598. PMID: 30370886
Genetic approaches to metabolic bone diseases.
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Metabolic Response to Everolimus in Patient-Derived Triple-Negative Breast Cancer Xenografts.
Euceda LR, Hill DK, Stokke E, Hatem R, El Botty R, Bièche I, Marangoni E, Bathen TF, Moestue SA
J Proteome Res 2017 May 5;16(5):1868-1879. Epub 2017 Apr 3 doi: 10.1021/acs.jproteome.6b00918. PMID: 28290700

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