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Abnormal circulating enzyme concentration or activity

MedGen UID:
1841554
Concept ID:
C5826351
Finding
HPO: HP:0012379

Definition

Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating enzyme concentration or activity

Conditions with this feature

Deoxyribose-5-phosphate aldolase deficiency
MedGen UID:
377617
Concept ID:
C1852200
Disease or Syndrome

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Barkun AN, Almadi M, Kuipers EJ, Laine L, Sung J, Tse F, Leontiadis GI, Abraham NS, Calvet X, Chan FKL, Douketis J, Enns R, Gralnek IM, Jairath V, Jensen D, Lau J, Lip GYH, Loffroy R, Maluf-Filho F, Meltzer AC, Reddy N, Saltzman JR, Marshall JK, Bardou M
Ann Intern Med 2019 Dec 3;171(11):805-822. Epub 2019 Oct 22 doi: 10.7326/M19-1795. PMID: 31634917Free PMC Article
Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article

Recent clinical studies

Etiology

Billinger SA, Arena R, Bernhardt J, Eng JJ, Franklin BA, Johnson CM, MacKay-Lyons M, Macko RF, Mead GE, Roth EJ, Shaughnessy M, Tang A; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Lifestyle and Cardiometabolic Health; Council on Epidemiology and Prevention; Council on Clinical Cardiology
Stroke 2014 Aug;45(8):2532-53. Epub 2014 May 20 doi: 10.1161/STR.0000000000000022. PMID: 24846875
González-Gross M, Meléndez A
Nutr Hosp 2013 Sep;28 Suppl 5:89-98. doi: 10.3305/nh.2013.28.sup5.6923. PMID: 24010748
Landry BW, Driscoll SW
PM R 2012 Nov;4(11):826-32. doi: 10.1016/j.pmrj.2012.09.585. PMID: 23174545
Tudor-Locke C, Bassett DR Jr
Sports Med 2004;34(1):1-8. doi: 10.2165/00007256-200434010-00001. PMID: 14715035
Pascual-Leone A, Nguyet D, Cohen LG, Brasil-Neto JP, Cammarota A, Hallett M
J Neurophysiol 1995 Sep;74(3):1037-45. doi: 10.1152/jn.1995.74.3.1037. PMID: 7500130

Diagnosis

Peterson DS, Fling BW
Neuroimage Clin 2018;17:153-162. Epub 2017 Sep 28 doi: 10.1016/j.nicl.2017.09.019. PMID: 29071209Free PMC Article
Dusing SC
Dev Med Child Neurol 2016 Mar;58 Suppl 4:17-21. doi: 10.1111/dmcn.13045. PMID: 27027603
Kwok CS, Anderson SG, Myint PK, Mamas MA, Loke YK
Int J Cardiol 2014 Dec 15;177(2):467-76. Epub 2014 Sep 28 doi: 10.1016/j.ijcard.2014.09.104. PMID: 25443248
Perruchoud C, Buchser E, Johanek LM, Aminian K, Paraschiv-Ionescu A, Taylor RS
Neuromodulation 2014 Jun;17 Suppl 1:42-7. doi: 10.1111/ner.12036. PMID: 24974774
Bennell K, Dobson F, Hinman R
Arthritis Care Res (Hoboken) 2011 Nov;63 Suppl 11:S350-70. doi: 10.1002/acr.20538. PMID: 22588756

Therapy

Poyatos-León R, García-Hermoso A, Sanabria-Martínez G, Álvarez-Bueno C, Cavero-Redondo I, Martínez-Vizcaíno V
Birth 2017 Sep;44(3):200-208. Epub 2017 Jun 6 doi: 10.1111/birt.12294. PMID: 28589648
French B, Thomas LH, Coupe J, McMahon NE, Connell L, Harrison J, Sutton CJ, Tishkovskaya S, Watkins CL
Cochrane Database Syst Rev 2016 Nov 14;11(11):CD006073. doi: 10.1002/14651858.CD006073.pub3. PMID: 27841442Free PMC Article
O'Halloran PD, Blackstock F, Shields N, Holland A, Iles R, Kingsley M, Bernhardt J, Lannin N, Morris ME, Taylor NF
Clin Rehabil 2014 Dec;28(12):1159-71. Epub 2014 Jun 18 doi: 10.1177/0269215514536210. PMID: 24942478
Dobbins M, Husson H, DeCorby K, LaRocca RL
Cochrane Database Syst Rev 2013 Feb 28;2013(2):CD007651. doi: 10.1002/14651858.CD007651.pub2. PMID: 23450577Free PMC Article
Dromerick AW, Lum PS, Hidler J
NeuroRx 2006 Oct;3(4):428-38. doi: 10.1016/j.nurx.2006.07.004. PMID: 17012056Free PMC Article

Prognosis

Lee DH, Rezende LFM, Joh HK, Keum N, Ferrari G, Rey-Lopez JP, Rimm EB, Tabung FK, Giovannucci EL
Circulation 2022 Aug 16;146(7):523-534. Epub 2022 Jul 25 doi: 10.1161/CIRCULATIONAHA.121.058162. PMID: 35876019Free PMC Article
Chudasama YV, Khunti KK, Zaccardi F, Rowlands AV, Yates T, Gillies CL, Davies MJ, Dhalwani NN
BMC Med 2019 Jun 12;17(1):108. doi: 10.1186/s12916-019-1339-0. PMID: 31186007Free PMC Article
McTiernan A, Friedenreich CM, Katzmarzyk PT, Powell KE, Macko R, Buchner D, Pescatello LS, Bloodgood B, Tennant B, Vaux-Bjerke A, George SM, Troiano RP, Piercy KL; 2018 PHYSICAL ACTIVITY GUIDELINES ADVISORY COMMITTEE*
Med Sci Sports Exerc 2019 Jun;51(6):1252-1261. doi: 10.1249/MSS.0000000000001937. PMID: 31095082Free PMC Article
Tipping CJ, Harrold M, Holland A, Romero L, Nisbet T, Hodgson CL
Intensive Care Med 2017 Feb;43(2):171-183. Epub 2016 Nov 18 doi: 10.1007/s00134-016-4612-0. PMID: 27864615
Biswas A, Oh PI, Faulkner GE, Bajaj RR, Silver MA, Mitchell MS, Alter DA
Ann Intern Med 2015 Jan 20;162(2):123-32. doi: 10.7326/M14-1651. PMID: 25599350

Clinical prediction guides

Drew PJ, Winder AT, Zhang Q
Neuroscientist 2019 Aug;25(4):298-313. Epub 2018 Oct 12 doi: 10.1177/1073858418805427. PMID: 30311838Free PMC Article
Fulk GD, He Y, Boyne P, Dunning K
Stroke 2017 Feb;48(2):406-411. Epub 2017 Jan 5 doi: 10.1161/STROKEAHA.116.015309. PMID: 28057807
Einspieler C, Peharz R, Marschik PB
J Pediatr (Rio J) 2016 May-Jun;92(3 Suppl 1):S64-70. Epub 2016 Mar 17 doi: 10.1016/j.jped.2015.12.003. PMID: 26997356
van Dongen JM, Proper KI, van Wier MF, van der Beek AJ, Bongers PM, van Mechelen W, van Tulder MW
Scand J Work Environ Health 2012 Sep;38(5):393-408. Epub 2012 Jan 24 doi: 10.5271/sjweh.3275. PMID: 22270562
Tyson S, Connell L
Clin Rehabil 2009 Nov;23(11):1018-33. Epub 2009 Sep 28 doi: 10.1177/0269215509339004. PMID: 19786420

Recent systematic reviews

Pojednic R, D'Arpino E, Halliday I, Bantham A
Int J Environ Res Public Health 2022 Apr 20;19(9) doi: 10.3390/ijerph19094981. PMID: 35564376Free PMC Article
Tipping CJ, Harrold M, Holland A, Romero L, Nisbet T, Hodgson CL
Intensive Care Med 2017 Feb;43(2):171-183. Epub 2016 Nov 18 doi: 10.1007/s00134-016-4612-0. PMID: 27864615
French B, Thomas LH, Coupe J, McMahon NE, Connell L, Harrison J, Sutton CJ, Tishkovskaya S, Watkins CL
Cochrane Database Syst Rev 2016 Nov 14;11(11):CD006073. doi: 10.1002/14651858.CD006073.pub3. PMID: 27841442Free PMC Article
Aune D, Norat T, Leitzmann M, Tonstad S, Vatten LJ
Eur J Epidemiol 2015 Jul;30(7):529-42. Epub 2015 Jun 20 doi: 10.1007/s10654-015-0056-z. PMID: 26092138
Teixeira PJ, Carraça EV, Markland D, Silva MN, Ryan RM
Int J Behav Nutr Phys Act 2012 Jun 22;9:78. doi: 10.1186/1479-5868-9-78. PMID: 22726453Free PMC Article

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