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Abnormal circulating amino acid concentration

MedGen UID:
871177
•Concept ID:
C4025653
•
Finding
Synonym: Abnormality of serum amino acid levels
 
HPO: HP:0003112

Definition

The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating amino acid concentration

Professional guidelines

PubMed

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
Liver involvement in human schistosomiasis mansoni. Regression of immunological and biochemical disease markers after specific treatment.
Zwingenberger K, Harms G, Feldmeier H, Müller O, Steiner A, Bienzle U
Acta Trop 1988 Sep;45(3):263-75. PMID: 2903628
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
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM
Circulation 2022 Feb 22;145(8):606-619. Epub 2022 Feb 3 doi: 10.1161/CIRCULATIONAHA.121.054347. PMID: 35113653Free PMC Article
Central hypothyroidism - a neglected thyroid disorder.
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Homocysteine, intracellular signaling and thrombotic disorders.
Dionisio N, Jardín I, Salido GM, Rosado JA
Curr Med Chem 2010;17(27):3109-19. doi: 10.2174/092986710791959783. PMID: 20629621
Grades of hypothyroidism.
Evered DC, Ormston BJ, Smith PA, Hall R, Bird T
Br Med J 1973 Mar 17;1(5854):657-62. doi: 10.1136/bmj.1.5854.657. PMID: 4120849Free PMC Article

Diagnosis

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM
Circulation 2022 Feb 22;145(8):606-619. Epub 2022 Feb 3 doi: 10.1161/CIRCULATIONAHA.121.054347. PMID: 35113653Free PMC Article
Central hypothyroidism - a neglected thyroid disorder.
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
New insights into thyroid hormone action.
Mendoza A, Hollenberg AN
Pharmacol Ther 2017 May;173:135-145. Epub 2017 Feb 4 doi: 10.1016/j.pharmthera.2017.02.012. PMID: 28174093Free PMC Article
Hypoaminoacidemia Characterizes Chronic Traumatic Brain Injury.
Durham WJ, Foreman JP, Randolph KM, Danesi CP, Spratt H, Masel BD, Summons JR, Singh CK, Morrison M, Robles C, Wolfram C, Kreber LA, Urban RJ, Sheffield-Moore M, Masel BE
J Neurotrauma 2017 Jan 15;34(2):385-390. Epub 2016 Jun 16 doi: 10.1089/neu.2015.4350. PMID: 27178787
Grades of hypothyroidism.
Evered DC, Ormston BJ, Smith PA, Hall R, Bird T
Br Med J 1973 Mar 17;1(5854):657-62. doi: 10.1136/bmj.1.5854.657. PMID: 4120849Free PMC Article

Therapy

Factors influencing the levothyroxine dose in the hormone replacement therapy of primary hypothyroidism in adults.
Caron P, Grunenwald S, Persani L, Borson-Chazot F, Leroy R, Duntas L
Rev Endocr Metab Disord 2022 Jun;23(3):463-483. Epub 2021 Oct 20 doi: 10.1007/s11154-021-09691-9. PMID: 34671932Free PMC Article
Central hypothyroidism - a neglected thyroid disorder.
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
The thyroid--too much and too little across the ages. The consequences of subclinical thyroid dysfunction.
Franklyn JA
Clin Endocrinol (Oxf) 2013 Jan;78(1):1-8. doi: 10.1111/cen.12011. PMID: 22891671
Cardiovascular involvement in psoriatic arthritis.
Atzeni F, Turiel M, Boccassini L, Sitia S, Tomasoni L, Battellino M, Marchesoni A, De Gennaro Colonna V, Sarzi-Puttini P
Reumatismo 2011 Nov 9;63(3):148-54. doi: 10.4081/reumatismo.2011.148. PMID: 22257915
Effect of food fortification on folic acid intake in the United States.
Quinlivan EP, Gregory JF 3rd
Am J Clin Nutr 2003 Jan;77(1):221-5. doi: 10.1093/ajcn/77.1.221. PMID: 12499345

Prognosis

Divergent Survival Outcomes Associated with Elevated Branched-Chain Amino Acid Levels among Older Adults with or without Hypertension and Diabetes: A Validated, Prospective, Longitudinal Follow-Up Study.
Fung E, Ng KH, Kwok T, Lui LT, Palaniswamy S, Chan Q, Lim LL, Wiklund P, Xie S, Turner C, Elshorbagy AK, Refsum H, Leung JCS, Kong APS, Chan JCN, Järvelin MR, Woo J
Biomolecules 2023 Aug 16;13(8) doi: 10.3390/biom13081252. PMID: 37627317Free PMC Article
Decreased circulating levels of free triiodothyronine in Sepsis children and correlation analysis.
Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
Lipid Risk Factors in Vitiligo: Homocysteine the Connecting Link?
Taneja K, Taneja J, Kaur C, Patel S, Haldar D
Clin Lab 2020 Oct 1;66(10) doi: 10.7754/Clin.Lab.2020.200120. PMID: 33073941
Effect of food fortification on folic acid intake in the United States.
Quinlivan EP, Gregory JF 3rd
Am J Clin Nutr 2003 Jan;77(1):221-5. doi: 10.1093/ajcn/77.1.221. PMID: 12499345
Methods for measuring sulfur amino acid metabolism.
Hoffer LJ
Curr Opin Clin Nutr Metab Care 2002 Sep;5(5):511-7. doi: 10.1097/00075197-200209000-00009. PMID: 12172474

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
Decreased circulating levels of free triiodothyronine in Sepsis children and correlation analysis.
Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
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
Central hypothyroidism - a neglected thyroid disorder.
Beck-Peccoz P, Rodari G, Giavoli C, Lania A
Nat Rev Endocrinol 2017 Oct;13(10):588-598. Epub 2017 May 26 doi: 10.1038/nrendo.2017.47. PMID: 28549061
Effect of food fortification on folic acid intake in the United States.
Quinlivan EP, Gregory JF 3rd
Am J Clin Nutr 2003 Jan;77(1):221-5. doi: 10.1093/ajcn/77.1.221. PMID: 12499345

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
Higher versus lower protein intake in formula-fed low birth weight infants.
Fenton TR, Premji SS, Al-Wassia H, Sauve RS
Cochrane Database Syst Rev 2014 Apr 21;2014(4):CD003959. doi: 10.1002/14651858.CD003959.pub3. PMID: 24752987Free PMC Article
Higher versus lower protein intake in formula-fed low birth weight infants.
Premji SS, Fenton TR, Sauve RS
Cochrane Database Syst Rev 2006 Jan 25;(1):CD003959. doi: 10.1002/14651858.CD003959.pub2. PMID: 16437468

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