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Abnormal urine carboxylic acid level

MedGen UID:
1671015
•Concept ID:
C4732917
•
Finding
HPO: HP:0031980

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal urine carboxylic acid level

Professional guidelines

PubMed

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Wang F, Liang L, Ling S, Yu Y, Chen T, Xu F, Gong Z, Han L
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):298-305. doi: 10.3724/zdxbyxb-2022-0194. PMID: 36207831Free PMC Article
Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.
Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
Clinical and Metabolic Correlates of Calcium Oxalate Stone Subtypes: Implications for Etiology and Management.
Bamberger JN, Blum KA, Kan KM, Parkhomenko E, Gallante B, Gupta M
J Endourol 2019 Sep;33(9):755-760. Epub 2019 Jul 31 doi: 10.1089/end.2019.0245. PMID: 31154910

Recent clinical studies

Etiology

Scurvy.
Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Comparative study of the efficacy and safety of paracetamol, ibuprofen, and indomethacin in closure of patent ductus arteriosus in preterm neonates.
El-Mashad AE, El-Mahdy H, El Amrousy D, Elgendy M
Eur J Pediatr 2017 Feb;176(2):233-240. Epub 2016 Dec 21 doi: 10.1007/s00431-016-2830-7. PMID: 28004188
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G, Walter JH, Christodoulou J
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S419-23. Epub 2008 Nov 7 doi: 10.1007/s10545-008-0981-z. PMID: 18985435
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
Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.
Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Diagnostic evaluation of rhabdomyolysis.
Nance JR, Mammen AL
Muscle Nerve 2015 Jun;51(6):793-810. Epub 2015 Mar 14 doi: 10.1002/mus.24606. PMID: 25678154Free PMC Article
Clinical applications of urinary organic acids. Part 2. Dysbiosis markers.
Lord RS, Bralley JA
Altern Med Rev 2008 Dec;13(4):292-306. PMID: 19152477

Therapy

Scurvy.
Krečak I, Babić G, Skelin M
Acta Dermatovenerol Croat 2022 Jul;30(1):59-60. PMID: 36153722
MRI demonstration of gadolinium deposition in bone after monthly triple-dose gadopentetate dimeglumine and correlation with frequency of hypophosphatemia.
Bageac D, DeBevits JJ, Munbodh R, Kaplan J, Wu R, DiCamillo PA, Hu C, Wang Y, Karimeddini D, Naismith RT, Dhib-Jalbut S, Wolansky L
Clin Imaging 2021 Feb;70:136-141. Epub 2020 Jul 30 doi: 10.1016/j.clinimag.2020.07.022. PMID: 33161342
Comparative study of the efficacy and safety of paracetamol, ibuprofen, and indomethacin in closure of patent ductus arteriosus in preterm neonates.
El-Mashad AE, El-Mahdy H, El Amrousy D, Elgendy M
Eur J Pediatr 2017 Feb;176(2):233-240. Epub 2016 Dec 21 doi: 10.1007/s00431-016-2830-7. PMID: 28004188
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease.
Wierzbicki AS, Mayne PD, Lloyd MD, Burston D, Mei G, Sidey MC, Feher MD, Gibberd FB
J Lipid Res 2003 Aug;44(8):1481-8. Epub 2003 Apr 16 doi: 10.1194/jlr.M300121-JLR200. PMID: 12700346
Iron chelation therapy.
Hoffbrand AV, Wonke B
J Intern Med Suppl 1997;740:37-41. PMID: 9350180

Prognosis

Metabolomics of various samples advancing biomarker discovery and pathogenesis elucidation for diabetic retinopathy.
Du X, Yang L, Kong L, Sun Y, Shen K, Cai Y, Sun H, Zhang B, Guo S, Zhang A, Wang X
Front Endocrinol (Lausanne) 2022;13:1037164. Epub 2022 Oct 27 doi: 10.3389/fendo.2022.1037164. PMID: 36387907Free PMC Article
Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.
Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.
Martínez-Lage JF, Casas C, Fernández MA, Puche A, Rodriguez Costa T, Poza M
Childs Nerv Syst 1994 Apr;10(3):198-203. doi: 10.1007/BF00301092. PMID: 8044820
DOPA metabolism in neuroblastoma.
Helson L, Johnson GA, Smith R
Med Pediatr Oncol 1980;8(4):317-22. doi: 10.1002/mpo.2950080402. PMID: 6779102

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
Update on the Diagnosis and Treatment of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome: A Review.
Khouri J, Nakashima M, Wong S
JAMA Oncol 2021 Sep 1;7(9):1383-1391. doi: 10.1001/jamaoncol.2021.0586. PMID: 34081097
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Karaoğlu S, Karaaslan F, Mermerkaya MU
Acta Orthop Traumatol Turc 2016 Oct;50(5):584-586. Epub 2016 Nov 3 doi: 10.1016/j.aott.2016.08.018. PMID: 27817975Free PMC Article
DOPA metabolism in neuroblastoma.
Helson L, Johnson GA, Smith R
Med Pediatr Oncol 1980;8(4):317-22. doi: 10.1002/mpo.2950080402. PMID: 6779102

Recent systematic reviews

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
Comparative efficacy and safety of mycophenolate mofetil and cyclophosphamide in the induction treatment of lupus nephritis: A systematic review and meta-analysis.
Jiang YP, Zhao XX, Chen RR, Xu ZH, Wen CP, Yu J
Medicine (Baltimore) 2020 Sep 18;99(38):e22328. doi: 10.1097/MD.0000000000022328. PMID: 32957400Free PMC Article
Paracetamol (acetaminophen) for patent ductus arteriosus in preterm or low birth weight infants.
Ohlsson A, Shah PS
Cochrane Database Syst Rev 2018 Apr 6;4(4):CD010061. doi: 10.1002/14651858.CD010061.pub3. PMID: 29624206Free PMC Article
Ibuprofen for the prevention of patent ductus arteriosus in preterm and/or low birth weight infants.
Shah SS, Ohlsson A
Cochrane Database Syst Rev 2006 Jan 25;(1):CD004213. doi: 10.1002/14651858.CD004213.pub2. PMID: 16437478
Ibuprofen for the prevention of patent ductus arteriosus in preterm and/or low birth weight infants.
Shah SS, Ohlsson A
Cochrane Database Syst Rev 2003;(2):CD004213. doi: 10.1002/14651858.CD004213. PMID: 12804505

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