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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

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
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
Comparison of two experimental models for assessment of cardiac preservation.
Fremes SE, Furukawa RD, Li RK, Weisel RD, Mickle DA, Tumiati LC
Ann Thorac Surg 1993 Jan;55(1):144-50. doi: 10.1016/0003-4975(93)90492-z. PMID: 8417663
Metabolic response to exercise in malignant hyperthermia-sensitive patients measured by 31P magnetic resonance spectroscopy.
Webster DW, Thompson RT, Gravelle DR, Laschuk MJ, Driedger AA
Magn Reson Med 1990 Jul;15(1):81-9. doi: 10.1002/mrm.1910150109. PMID: 2374503

Diagnosis

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
Vitamin A-sensitive tissues in transgenic mice expressing high levels of human cellular retinol-binding protein type I are not altered phenotypically.
Trøen G, Eskild W, Fromm SH, De Luca LM, Ong DE, Wardlaw SA, Reppe S, Blomhoff R
J Nutr 1999 Sep;129(9):1621-7. doi: 10.1093/jn/129.9.1621. PMID: 10460195
31-P NMR characterization of the metabolic anomalies associated with the lack of glycogen phosphorylase activity in human forearm muscle.
Bendahan D, Confort-Gouny S, Kozak-Ribbens G, Cozzone PJ
Biochem Biophys Res Commun 1992 May 29;185(1):16-21. doi: 10.1016/s0006-291x(05)80948-9. PMID: 1599452
Metabolic response to exercise in malignant hyperthermia-sensitive patients measured by 31P magnetic resonance spectroscopy.
Webster DW, Thompson RT, Gravelle DR, Laschuk MJ, Driedger AA
Magn Reson Med 1990 Jul;15(1):81-9. doi: 10.1002/mrm.1910150109. PMID: 2374503

Therapy

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
Vitamin A-sensitive tissues in transgenic mice expressing high levels of human cellular retinol-binding protein type I are not altered phenotypically.
Trøen G, Eskild W, Fromm SH, De Luca LM, Ong DE, Wardlaw SA, Reppe S, Blomhoff R
J Nutr 1999 Sep;129(9):1621-7. doi: 10.1093/jn/129.9.1621. PMID: 10460195

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
[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
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KG, Turnbull DM
Diabetes Care 1994 Jul;17(7):728-33. doi: 10.2337/diacare.17.7.728. PMID: 7924787

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
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
31-P NMR characterization of the metabolic anomalies associated with the lack of glycogen phosphorylase activity in human forearm muscle.
Bendahan D, Confort-Gouny S, Kozak-Ribbens G, Cozzone PJ
Biochem Biophys Res Commun 1992 May 29;185(1):16-21. doi: 10.1016/s0006-291x(05)80948-9. PMID: 1599452
Human muscle cell denervation: the results of a 31-phosphorus magnetic resonance spectroscopy study.
Frostick SP, Taylor DJ, Dolecki MJ, Radda GK
J Hand Surg Br 1992 Feb;17(1):33-45. doi: 10.1016/0266-7681(92)90009-q. PMID: 1386380
Metabolic response to exercise in malignant hyperthermia-sensitive patients measured by 31P magnetic resonance spectroscopy.
Webster DW, Thompson RT, Gravelle DR, Laschuk MJ, Driedger AA
Magn Reson Med 1990 Jul;15(1):81-9. doi: 10.1002/mrm.1910150109. PMID: 2374503

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