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Increased circulating creatine kinase MM isoform

MedGen UID:
1707383
Concept ID:
C5139213
Finding
Synonym: Increased circulating CK MM isoform
 
HPO: HP:0032234

Definition

An increased concentration of the MM isoform of creatine kinase in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased circulating creatine kinase MM isoform

Conditions with this feature

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
MedGen UID:
462408
Concept ID:
C3151058
Disease or Syndrome
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive severe neurometabolic disorder affecting the muscles, liver, and nervous system, resulting in death in infancy (summary by Bas et al., 2020). Other causes of hypermethioninemia include hereditary tyrosinemia (276700), cystathionine beta-synthase deficiency (236200), and methionine adenosyltransferase deficiency (250850).

Professional guidelines

PubMed

Trinchieri A, Mandressi A, Zanetti G, Ruoppolo M, Tombolini P, Pisani E
Urol Res 1988;16(2):101-4. doi: 10.1007/BF00261965. PMID: 3368997

Recent clinical studies

Etiology

Hao Y, Yuan H, Yu H
Cell Mol Biol Lett 2020;25:20. Epub 2020 Mar 17 doi: 10.1186/s11658-020-00213-0. PMID: 32206064Free PMC Article
Chaudhuri A, Janicke D, Wilson MF, Tripathy D, Garg R, Bandyopadhyay A, Calieri J, Hoffmeyer D, Syed T, Ghanim H, Aljada A, Dandona P
Circulation 2004 Feb 24;109(7):849-54. Epub 2004 Feb 2 doi: 10.1161/01.CIR.0000116762.77804.FC. PMID: 14757687
Zimmerman J, Fromm R, Meyer D, Boudreaux A, Wun CC, Smalling R, Davis B, Habib G, Roberts R
Circulation 1999 Apr 6;99(13):1671-7. doi: 10.1161/01.cir.99.13.1671. PMID: 10190875
Hahn RG, Essén P
Acta Anaesthesiol Scand 1994 Aug;38(6):550-6. doi: 10.1111/j.1399-6576.1994.tb03950.x. PMID: 7976144
Wei JY, Markis JE, Malagold M, Grossman W
Arch Intern Med 1985 Sep;145(9):1596-600. PMID: 4026489

Diagnosis

Auer J, Berent R, Lassnig E, Eber B
Jpn Heart J 2002 Nov;43(6):607-19. doi: 10.1536/jhj.43.607. PMID: 12558125
Bayes-Genis A, Conover CA, Overgaard MT, Bailey KR, Christiansen M, Holmes DR Jr, Virmani R, Oxvig C, Schwartz RS
N Engl J Med 2001 Oct 4;345(14):1022-9. doi: 10.1056/NEJMoa003147. PMID: 11586954
Mihm MJ, Yu F, Carnes CA, Reiser PJ, McCarthy PM, Van Wagoner DR, Bauer JA
Circulation 2001 Jul 10;104(2):174-80. doi: 10.1161/01.cir.104.2.174. PMID: 11447082
Zimmerman J, Fromm R, Meyer D, Boudreaux A, Wun CC, Smalling R, Davis B, Habib G, Roberts R
Circulation 1999 Apr 6;99(13):1671-7. doi: 10.1161/01.cir.99.13.1671. PMID: 10190875
Ahumada G, Roberts R, Sobel BE
Prog Cardiovasc Dis 1976 Mar-Apr;18(5):405-20. doi: 10.1016/0033-0620(76)90004-9. PMID: 775531

Therapy

Casuso RA, Aragon-Vela J, Huertas JR, Ruiz-Ariza A, Martínez-Lopez EJ
Scand J Med Sci Sports 2018 Apr;28(4):1371-1378. Epub 2018 Jan 24 doi: 10.1111/sms.13046. PMID: 29281146
Lecanu L, Yao ZX, McCourty A, Sidahmed el-K, Orellana ME, Burnier MN, Papadopoulos V
Steroids 2013 Feb;78(2):137-46. Epub 2012 Nov 23 doi: 10.1016/j.steroids.2012.10.018. PMID: 23182766Free PMC Article
Chaudhuri A, Janicke D, Wilson MF, Tripathy D, Garg R, Bandyopadhyay A, Calieri J, Hoffmeyer D, Syed T, Ghanim H, Aljada A, Dandona P
Circulation 2004 Feb 24;109(7):849-54. Epub 2004 Feb 2 doi: 10.1161/01.CIR.0000116762.77804.FC. PMID: 14757687
Squadrito F, Saitta A, Altavilla D, Ioculano M, Canale P, Campo GM, Squadrito G, Di Tano G, Mazzu A, Caputi AP
Inflamm Res 1996 Jan;45(1):14-9. doi: 10.1007/BF02263499. PMID: 8821773
Apple FS, Henry TD, Berger CR, Landt YA
Am J Clin Pathol 1996 Jan;105(1):6-10. doi: 10.1093/ajcp/105.1.6. PMID: 8561090

Prognosis

Akkerhuis KM, Alexander JH, Tardiff BE, Boersma E, Harrington RA, Lincoff AM, Simoons ML
Circulation 2002 Feb 5;105(5):554-6. doi: 10.1161/hc0502.104278. PMID: 11827918
Bayes-Genis A, Conover CA, Overgaard MT, Bailey KR, Christiansen M, Holmes DR Jr, Virmani R, Oxvig C, Schwartz RS
N Engl J Med 2001 Oct 4;345(14):1022-9. doi: 10.1056/NEJMoa003147. PMID: 11586954
Prager NA, Suzuki T, Jaffe AS, Sobel BE, Abendschein DR
J Am Coll Cardiol 1992 Aug;20(2):414-9. doi: 10.1016/0735-1097(92)90111-y. PMID: 1634680
Wei JY, Markis JE, Malagold M, Grossman W
Arch Intern Med 1985 Sep;145(9):1596-600. PMID: 4026489
Ahumada G, Roberts R, Sobel BE
Prog Cardiovasc Dis 1976 Mar-Apr;18(5):405-20. doi: 10.1016/0033-0620(76)90004-9. PMID: 775531

Clinical prediction guides

Lecanu L, Yao ZX, McCourty A, Sidahmed el-K, Orellana ME, Burnier MN, Papadopoulos V
Steroids 2013 Feb;78(2):137-46. Epub 2012 Nov 23 doi: 10.1016/j.steroids.2012.10.018. PMID: 23182766Free PMC Article
Chaudhuri A, Janicke D, Wilson MF, Tripathy D, Garg R, Bandyopadhyay A, Calieri J, Hoffmeyer D, Syed T, Ghanim H, Aljada A, Dandona P
Circulation 2004 Feb 24;109(7):849-54. Epub 2004 Feb 2 doi: 10.1161/01.CIR.0000116762.77804.FC. PMID: 14757687
Auer J, Berent R, Lassnig E, Eber B
Jpn Heart J 2002 Nov;43(6):607-19. doi: 10.1536/jhj.43.607. PMID: 12558125
Apple FS, Henry TD, Berger CR, Landt YA
Am J Clin Pathol 1996 Jan;105(1):6-10. doi: 10.1093/ajcp/105.1.6. PMID: 8561090
Ahumada G, Roberts R, Sobel BE
Prog Cardiovasc Dis 1976 Mar-Apr;18(5):405-20. doi: 10.1016/0033-0620(76)90004-9. PMID: 775531

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