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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
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
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

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

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
Growth hormone, insulin-like growth factor-I and the cortisol-cortisone shuttle.
Stewart PM, Toogood AA, Tomlinson JW
Horm Res 2001;56 Suppl 1:1-6. doi: 10.1159/000048126. PMID: 11786677
Amiodarone and its desethyl metabolite: tissue distribution and morphologic changes during long-term therapy.
Adams PC, Holt DW, Storey GC, Morley AR, Callaghan J, Campbell RW
Circulation 1985 Nov;72(5):1064-75. doi: 10.1161/01.cir.72.5.1064. PMID: 3930086

Prognosis

Arginine-NO metabolites are associated with morbidity in single ventricle infants undergoing stage 2 palliation.
Frank BS, Niemiec S, Khailova L, Mancuso CA, Lehmann T, Mitchell MB, Morgan GJ, Twite M, DiMaria MV, Klawitter J, Davidson JA
Pediatr Res 2024 Jul;96(2):347-355. Epub 2024 Apr 2 doi: 10.1038/s41390-024-03162-y. PMID: 38565916
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
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
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
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
Metabolism of 1,25-dihydroxyvitamin D3.
Kumar R
Physiol Rev 1984 Apr;64(2):478-504. doi: 10.1152/physrev.1984.64.2.478. PMID: 6324253

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