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Abnormal muscle tissue metabolite concentration

MedGen UID:
1815100
•Concept ID:
C5706194
•
Finding
HPO: HP:0034370

Professional guidelines

PubMed

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ
J Inherit Metab Dis 2017 Jan;40(1):5-20. Epub 2016 Sep 26 doi: 10.1007/s10545-016-9972-7. PMID: 27671891Free PMC Article

Recent clinical studies

Etiology

Norquetiapine blocks the human cardiac sodium channel Na(v)1.5 in a state-dependent manner.
Kim DH, Park KS, Park SH, Hahn SJ, Choi JS
Eur J Pharmacol 2020 Oct 15;885:173532. Epub 2020 Sep 1 doi: 10.1016/j.ejphar.2020.173532. PMID: 32882214
Diabetes and branched-chain amino acids: What is the link?
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ
J Inherit Metab Dis 2017 Jan;40(1):5-20. Epub 2016 Sep 26 doi: 10.1007/s10545-016-9972-7. PMID: 27671891Free PMC Article
Quantification of 16 QT-prolonging Drugs and Metabolites in Human Postmortem Blood and Cardiac Tissue Using UPLC-MS-MS.
Mikkelsen CR, Jornil JR, Andersen LV, Banner J, Hasselstrøm JB
J Anal Toxicol 2016 May;40(4):286-93. Epub 2016 Mar 13 doi: 10.1093/jat/bkw014. PMID: 26977106
Abnormal cardiac and skeletal muscle energy metabolism in patients with type 2 diabetes.
Scheuermann-Freestone M, Madsen PL, Manners D, Blamire AM, Buckingham RE, Styles P, Radda GK, Neubauer S, Clarke K
Circulation 2003 Jun 24;107(24):3040-6. Epub 2003 Jun 16 doi: 10.1161/01.CIR.0000072789.89096.10. PMID: 12810608

Diagnosis

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR, Zierz S
Molecules 2020 Apr 13;25(8) doi: 10.3390/molecules25081784. PMID: 32295037Free PMC Article
Diabetes and branched-chain amino acids: What is the link?
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ
J Inherit Metab Dis 2017 Jan;40(1):5-20. Epub 2016 Sep 26 doi: 10.1007/s10545-016-9972-7. PMID: 27671891Free PMC Article
Abnormal cardiac and skeletal muscle energy metabolism in patients with type 2 diabetes.
Scheuermann-Freestone M, Madsen PL, Manners D, Blamire AM, Buckingham RE, Styles P, Radda GK, Neubauer S, Clarke K
Circulation 2003 Jun 24;107(24):3040-6. Epub 2003 Jun 16 doi: 10.1161/01.CIR.0000072789.89096.10. PMID: 12810608

Therapy

Genistein stimulates insulin sensitivity through gut microbiota reshaping and skeletal muscle AMPK activation in obese subjects.
Guevara-Cruz M, Godinez-Salas ET, Sanchez-Tapia M, Torres-Villalobos G, Pichardo-Ontiveros E, Guizar-Heredia R, Arteaga-Sanchez L, Gamba G, Mojica-Espinosa R, Schcolnik-Cabrera A, Granados O, López-Barradas A, Vargas-Castillo A, Torre-Villalvazo I, Noriega LG, Torres N, Tovar AR
BMJ Open Diabetes Res Care 2020 Mar;8(1) doi: 10.1136/bmjdrc-2019-000948. PMID: 32152146Free PMC Article
Distribution of Eight QT-Prolonging Drugs and Their Main Metabolites Between Postmortem Cardiac Tissue and Blood Reveals Potential Pitfalls in Toxicological Interpretation.
Mikkelsen CR, Jornil JR, Andersen LV, Banner J, Hasselstrøm JB
J Anal Toxicol 2018 Jul 1;42(6):375-383. doi: 10.1093/jat/bky018. PMID: 29579279
Diabetes and branched-chain amino acids: What is the link?
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529
Carnitine deficiency disorders in children.
Stanley CA
Ann N Y Acad Sci 2004 Nov;1033:42-51. doi: 10.1196/annals.1320.004. PMID: 15591002
Abnormal cardiac and skeletal muscle energy metabolism in patients with type 2 diabetes.
Scheuermann-Freestone M, Madsen PL, Manners D, Blamire AM, Buckingham RE, Styles P, Radda GK, Neubauer S, Clarke K
Circulation 2003 Jun 24;107(24):3040-6. Epub 2003 Jun 16 doi: 10.1161/01.CIR.0000072789.89096.10. PMID: 12810608

Prognosis

Distribution of Eight QT-Prolonging Drugs and Their Main Metabolites Between Postmortem Cardiac Tissue and Blood Reveals Potential Pitfalls in Toxicological Interpretation.
Mikkelsen CR, Jornil JR, Andersen LV, Banner J, Hasselstrøm JB
J Anal Toxicol 2018 Jul 1;42(6):375-383. doi: 10.1093/jat/bky018. PMID: 29579279
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, Le Maréchal C, Rigal O, Marcorelles P, Gobin E, Carré JL, Zagnoli F, Giroux-Metges MA
PLoS One 2015;10(7):e0132972. Epub 2015 Jul 24 doi: 10.1371/journal.pone.0132972. PMID: 26207760Free PMC Article
Chemical mediators of the muscle ergoreflex in chronic heart failure: a putative role for prostaglandins in reflex ventilatory control.
Scott AC, Wensel R, Davos CH, Kemp M, Kaczmarek A, Hooper J, Coats AJ, Piepoli MF
Circulation 2002 Jul 9;106(2):214-20. doi: 10.1161/01.cir.0000021603.36744.5e. PMID: 12105161
[Ca2+]i in human heart failure: a review and discussion of current areas of controversy.
Liao R, Helm PA, Hajjar RJ, Saha C, Gwathmey JK
Yale J Biol Med 1994 Sep-Dec;67(5-6):247-64. PMID: 8579641Free PMC Article
MR spectroscopy of the human heart: the status and the challenges.
Bottomley PA
Radiology 1994 Jun;191(3):593-612. doi: 10.1148/radiology.191.3.8184033. PMID: 8184033

Clinical prediction guides

Diabetes and branched-chain amino acids: What is the link?
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Regulation of the mitochondrial ATP-synthase in health and disease.
Das AM
Mol Genet Metab 2003 Jun;79(2):71-82. doi: 10.1016/s1096-7192(03)00069-6. PMID: 12809636
[Ca2+]i in human heart failure: a review and discussion of current areas of controversy.
Liao R, Helm PA, Hajjar RJ, Saha C, Gwathmey JK
Yale J Biol Med 1994 Sep-Dec;67(5-6):247-64. PMID: 8579641Free PMC Article
Amphipathic lipid metabolites and their relation to arrhythmogenesis in the ischemic heart.
DaTorre SD, Creer MH, Pogwizd SM, Corr PB
J Mol Cell Cardiol 1991 Feb;23 Suppl 1:11-22. doi: 10.1016/0022-2828(91)90019-i. PMID: 2038071

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