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Abnormal urine metabolite level

MedGen UID:
1785188
•Concept ID:
C5539535
•
Finding
HPO: HP:0033354

Definition

Any deviation from the normal amount of a metabolite in urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal urine metabolite level

Professional guidelines

PubMed

Preconception exposure to environmental antibiotics among childbearing couples in Anhui and health risk assessment: A multicenter population-based representative study.
Wang B, Geng M, Li M, Wang X, Gan H, Tang Y, Yang Q, Liu Y, Yang X, Wang S, Liu K, Wei Z, Shao S, Zhu P, Cao Y, Tao F
Ecotoxicol Environ Saf 2023 Oct 15;265:115514. Epub 2023 Sep 30 doi: 10.1016/j.ecoenv.2023.115514. PMID: 37783111
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S, Schutz PW, Salomons GS
Subcell Biochem 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. PMID: 18652076
Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
Goldstein DS, Lenders JW, Kaler SG, Eisenhofer G
J Neurochem 1996 Nov;67(5):1781-90. doi: 10.1046/j.1471-4159.1996.67051781.x. PMID: 8863481

Recent clinical studies

Etiology

Associating prenatal antibiotics exposure with attention deficit hyperactivity disorder symptoms in preschool children: The role of maternal vitamin D.
Geng M, Yu Z, Wang B, Xiong W, Sang G, Song Y, Tong J, Gao H, Ding P, Liu K, Wu X, Huang K, Tao F
Ecotoxicol Environ Saf 2024 Oct 15;285:117037. Epub 2024 Sep 12 doi: 10.1016/j.ecoenv.2024.117037. PMID: 39270477
Organophosphate Flame Retardants in Pregnant Women: Sources, Occurrence, and Potential Risks to Pregnancy Outcomes.
Li Y, Wang X, Zhu Q, Xu Y, Fu Q, Wang T, Liao C, Jiang G
Environ Sci Technol 2023 May 9;57(18):7109-7128. Epub 2023 Apr 20 doi: 10.1021/acs.est.2c06503. PMID: 37079500
A pilot study of maternal exposure to organophosphate pesticides and newborn neurodevelopment in Thailand.
Woskie S, Kongtip P, Thanasanpaiboon W, Kiatdamrong N, Charoonrungsirikul N, Nankongnab N, Surach A, Phamonphon A
Int J Occup Environ Health 2017 Jul;23(3):193-201. Epub 2018 Mar 15 doi: 10.1080/10773525.2018.1450324. PMID: 29543129Free PMC Article
Dietary Modulation of Gut Microbiota Contributes to Alleviation of Both Genetic and Simple Obesity in Children.
Zhang C, Yin A, Li H, Wang R, Wu G, Shen J, Zhang M, Wang L, Hou Y, Ouyang H, Zhang Y, Zheng Y, Wang J, Lv X, Wang Y, Zhang F, Zeng B, Li W, Yan F, Zhao Y, Pang X, Zhang X, Fu H, Chen F, Zhao N, Hamaker BR, Bridgewater LC, Weinkove D, Clement K, Dore J, Holmes E, Xiao H, Zhao G, Yang S, Bork P, Nicholson JK, Wei H, Tang H, Zhang X, Zhao L
EBioMedicine 2015 Aug;2(8):968-84. Epub 2015 Jul 10 doi: 10.1016/j.ebiom.2015.07.007. PMID: 26425705Free PMC Article
Pathological gambling. A psychobiological study.
Roy A, Adinoff B, Roehrich L, Lamparski D, Custer R, Lorenz V, Barbaccia M, Guidotti A, Costa E, Linnoila M
Arch Gen Psychiatry 1988 Apr;45(4):369-73. doi: 10.1001/archpsyc.1988.01800280085011. PMID: 2451490

Diagnosis

Laboratory and metabolic investigations.
Morava E, Oglesbee D
Handb Clin Neurol 2023;194:167-172. doi: 10.1016/B978-0-12-821751-1.00012-9. PMID: 36813311
Apparent mineralocorticoid excess.
Funder JW
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):151-153. Epub 2016 Mar 5 doi: 10.1016/j.jsbmb.2016.03.010. PMID: 26956190
Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
Goldstein DS, Lenders JW, Kaler SG, Eisenhofer G
J Neurochem 1996 Nov;67(5):1781-90. doi: 10.1046/j.1471-4159.1996.67051781.x. PMID: 8863481
Apparent mineralocorticoid excess.
Funder JW
Endocrinol Metab Clin North Am 1995 Sep;24(3):613-21. PMID: 8575412
Carnitine metabolites in infants with cystic fibrosis.
Lloyd-Still JD, Powers C
Acta Univ Carol Med (Praha) 1990;36(1-4):78-80. PMID: 2130727

Therapy

Fibroblast Growth Factor 23 and Klotho in AKI.
Christov M, Neyra JA, Gupta S, Leaf DE
Semin Nephrol 2019 Jan;39(1):57-75. doi: 10.1016/j.semnephrol.2018.10.005. PMID: 30606408
A pilot study of maternal exposure to organophosphate pesticides and newborn neurodevelopment in Thailand.
Woskie S, Kongtip P, Thanasanpaiboon W, Kiatdamrong N, Charoonrungsirikul N, Nankongnab N, Surach A, Phamonphon A
Int J Occup Environ Health 2017 Jul;23(3):193-201. Epub 2018 Mar 15 doi: 10.1080/10773525.2018.1450324. PMID: 29543129Free PMC Article
Dietary Modulation of Gut Microbiota Contributes to Alleviation of Both Genetic and Simple Obesity in Children.
Zhang C, Yin A, Li H, Wang R, Wu G, Shen J, Zhang M, Wang L, Hou Y, Ouyang H, Zhang Y, Zheng Y, Wang J, Lv X, Wang Y, Zhang F, Zeng B, Li W, Yan F, Zhao Y, Pang X, Zhang X, Fu H, Chen F, Zhao N, Hamaker BR, Bridgewater LC, Weinkove D, Clement K, Dore J, Holmes E, Xiao H, Zhao G, Yang S, Bork P, Nicholson JK, Wei H, Tang H, Zhang X, Zhao L
EBioMedicine 2015 Aug;2(8):968-84. Epub 2015 Jul 10 doi: 10.1016/j.ebiom.2015.07.007. PMID: 26425705Free PMC Article
The physiology and pharmacology of melatonin in humans.
Geoffriau M, Brun J, Chazot G, Claustrat B
Horm Res 1998;49(3-4):136-41. doi: 10.1159/000023160. PMID: 9550114
Evidence of rebound effect with ascorbic acid.
Tsao CS, Salimi SL
Med Hypotheses 1984 Mar;13(3):303-10. doi: 10.1016/0306-9877(84)90163-4. PMID: 6717321

Prognosis

Mitochondrial HMG-CoA synthase deficiency.
Decru B, Lys M, Truijens K, Mercier N, Papadopoulos J, Rymen D, Roland D, Dewulf JP, Vermeersch P
Mol Genet Metab 2025 Jan;144(1):109007. Epub 2024 Dec 26 doi: 10.1016/j.ymgme.2024.109007. PMID: 39798988
Urinary Metabolite Profile Predicting the Progression of CKD.
Kim Y, Lee J, Kang MS, Song J, Kim SG, Cho S, Huh H, Lee S, Park S, Jo HA, Yang SH, Paek JH, Park WY, Han SS, Lee H, Lee JP, Joo KW, Lim CS, Hwang GS, Kim DK
Kidney360 2023 Aug 1;4(8):1048-1057. Epub 2023 Jun 9 doi: 10.34067/KID.0000000000000158. PMID: 37291728Free PMC Article
Organophosphate Flame Retardants in Pregnant Women: Sources, Occurrence, and Potential Risks to Pregnancy Outcomes.
Li Y, Wang X, Zhu Q, Xu Y, Fu Q, Wang T, Liao C, Jiang G
Environ Sci Technol 2023 May 9;57(18):7109-7128. Epub 2023 Apr 20 doi: 10.1021/acs.est.2c06503. PMID: 37079500
Fibroblast Growth Factor 23 and Klotho in AKI.
Christov M, Neyra JA, Gupta S, Leaf DE
Semin Nephrol 2019 Jan;39(1):57-75. doi: 10.1016/j.semnephrol.2018.10.005. PMID: 30606408
Cryptorchidism and pesticides: Is there a connection?
Fratrić I, Varga J, Vukmirović S, Sudji J, Živković D
J Pediatr Surg 2017 Jul;52(7):1166-1168. Epub 2016 Dec 7 doi: 10.1016/j.jpedsurg.2016.11.048. PMID: 27956069

Clinical prediction guides

Laboratory and metabolic investigations.
Morava E, Oglesbee D
Handb Clin Neurol 2023;194:167-172. doi: 10.1016/B978-0-12-821751-1.00012-9. PMID: 36813311
Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics.
Gomez-Gomez A, Aguilera P, Langohr K, Casals G, Pavon C, Marcos J, To-Figueras J, Pozo OJ
Int J Mol Sci 2022 Mar 16;23(6) doi: 10.3390/ijms23063219. PMID: 35328641Free PMC Article
Fibroblast Growth Factor 23 and Klotho in AKI.
Christov M, Neyra JA, Gupta S, Leaf DE
Semin Nephrol 2019 Jan;39(1):57-75. doi: 10.1016/j.semnephrol.2018.10.005. PMID: 30606408
A pilot study of maternal exposure to organophosphate pesticides and newborn neurodevelopment in Thailand.
Woskie S, Kongtip P, Thanasanpaiboon W, Kiatdamrong N, Charoonrungsirikul N, Nankongnab N, Surach A, Phamonphon A
Int J Occup Environ Health 2017 Jul;23(3):193-201. Epub 2018 Mar 15 doi: 10.1080/10773525.2018.1450324. PMID: 29543129Free PMC Article
The effect of cycloserine on pyridoxine-dependent metabolism in tuberculosis.
Nair S, Maguire W, Baron H, Imbruce R
J Clin Pharmacol 1976 Aug-Sep;16(8-9):439-43. doi: 10.1002/j.1552-4604.1976.tb02419.x. PMID: 972198

Recent systematic reviews

Paediatric obesity: a systematic review and pathway mapping of metabolic alterations underlying early disease processes.
De Spiegeleer M, De Paepe E, Van Meulebroek L, Gies I, De Schepper J, Vanhaecke L
Mol Med 2021 Nov 6;27(1):145. doi: 10.1186/s10020-021-00394-0. PMID: 34742239Free PMC Article
Association between prenatal phthalate exposure and gestational metabolic syndrome parameters: a systematic review of epidemiological studies.
Gao H, Zhang C, Tao FB
Environ Sci Pollut Res Int 2021 May;28(17):20921-20938. Epub 2021 Mar 5 doi: 10.1007/s11356-021-13120-4. PMID: 33674970
Metabolomic Analysis in Inflammatory Bowel Disease: A Systematic Review.
Gallagher K, Catesson A, Griffin JL, Holmes E, Williams HRT
J Crohns Colitis 2021 May 4;15(5):813-826. doi: 10.1093/ecco-jcc/jjaa227. PMID: 33175138

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