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Volumn 10, Issue 2, 2010, Pages 118-126

Diagnostic algorithm for metabolic myopathies

Author keywords

Fatty acid; Glycogenosis; Metabolic myopathies; Mitochondrial diseases

Indexed keywords

ALGORITHM; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GLYCOGEN STORAGE DISEASE; MELAS SYNDROME; MYOPATHY; REVIEW;

EID: 77953545301     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-010-0096-4     Document Type: Review
Times cited : (118)

References (53)
  • 1
    • 0033983730 scopus 로고    scopus 로고
    • Metabolic myopathies: A clinical approach: Part I
    • Darras BT, Friedman NR: Metabolic myopathies: A clinical approach: Part I. Pediatr Neurol 2000, 22:87-97.
    • (2000) Pediatr Neurol , vol.22 , pp. 87-97
    • Darras, B.T.1    Friedman, N.R.2
  • 2
    • 65549158070 scopus 로고    scopus 로고
    • Metabolic myopathies: Update 2009
    • This article reviews the key clinical features, diagnostic tests, and treatment recommendations for the more common metabolic myopathies
    • van Adel BA, Tarnopolsky MA: Metabolic myopathies: Update 2009. J Clin Neuromuscul Dis 2009, 10:97-121. This article reviews the key clinical features, diagnostic tests, and treatment recommendations for the more common metabolic myopathies.
    • (2009) J Clin Neuromuscul Dis , vol.10 , pp. 97-121
    • Van Adel, B.A.1    Tarnopolsky, M.A.2
  • 4
    • 0032900117 scopus 로고    scopus 로고
    • Neonatal metabolic myopathies
    • Tein I: Neonatal metabolic myopathies. Semin Perinatol 1999, 23:125-151.
    • (1999) Semin Perinatol , vol.23 , pp. 125-151
    • Tein, I.1
  • 5
    • 0035653083 scopus 로고    scopus 로고
    • Metabolic myopathies in adulthood. Features and clues for diagnosis [in French]
    • Eymard B, Laforět P: Metabolic myopathies in adulthood. Features and clues for diagnosis [in French]. Rev Med Interne 2001, 22:328-337.
    • (2001) Rev Med Interne , vol.22 , pp. 328-337
    • Eymard, B.1    Laforět, P.2
  • 6
    • 61849183643 scopus 로고    scopus 로고
    • Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations
    • Spiegel R, Gomez EA, Akman HO, et al.: Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations. Neuromuscul Disord 2009, 19:207-211.
    • (2009) Neuromuscul Disord , vol.19 , pp. 207-211
    • Spiegel, R.1    Gomez, E.A.2    Akman, H.O.3
  • 7
    • 67651163687 scopus 로고    scopus 로고
    • Muscle glycogenosis due to phosphoglucomutase 1 deficiency
    • Stojkovic T, Vissing J, Petit F, et al.: Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl JMed 2009, 23:425-427.
    • (2009) N Engl JMed , vol.23 , pp. 425-427
    • Stojkovic, T.1    Vissing, J.2    Petit, F.3
  • 8
    • 0033922177 scopus 로고    scopus 로고
    • Treatment of McArdle disease
    • Haller RG: Treatment of McArdle disease. Arch Neurol 2000, 57:923-924.
    • (2000) Arch Neurol , vol.57 , pp. 923-924
    • Haller, R.G.1
  • 9
    • 0036716959 scopus 로고    scopus 로고
    • Spontaneous 'second wind' and glucoseinduced second 'second wind' in McArdle disease: Oxidative mechanisms
    • Haller RG, Vissing J: Spontaneous 'second wind' and glucoseinduced second 'second wind' in McArdle disease: Oxidative mechanisms. Arch Neurol 2002, 59:1395-1402.
    • (2002) Arch Neurol , vol.59 , pp. 1395-1402
    • Haller, R.G.1    Vissing, J.2
  • 10
    • 0037314931 scopus 로고    scopus 로고
    • The spectrum of exercise tolerance in mitochondrial myopathies: A study of 40 patients
    • Taivassalo T, Jensen TD, Kennaway N, et al.: The spectrum of exercise tolerance in mitochondrial myopathies: A study of 40 patients. Brain 2003, 126:413-423.
    • (2003) Brain , vol.126 , pp. 413-423
    • Taivassalo, T.1    Jensen, T.D.2    Kennaway, N.3
  • 11
    • 43649099538 scopus 로고    scopus 로고
    • Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
    • ørngreen MC, Schelhaas HJ, Jeppesen TD, et al.: Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 2008, 70:1876-1882.
    • (2008) Neurology , vol.70 , pp. 1876-1882
    • Orngreen, M.C.1    Schelhaas, H.J.2    Jeppesen, T.D.3
  • 12
    • 12144249792 scopus 로고    scopus 로고
    • Muscle carnitine palmitoyltransferase II deficiency: Clinical and molecular genetic features and diagnostic aspects
    • Deschauer M Wieser T, Zierz S: Muscle carnitine palmitoyltransferase II deficiency: Clinical and molecular genetic features and diagnostic aspects. Arch Neurol 2005, 62:37-41
    • (2005) Arch Neurol , vol.62 , pp. 37-41
    • Deschauer, M.1    Wieser, T.2    Zierz, S.3
  • 13
    • 11144219966 scopus 로고    scopus 로고
    • Fuel utilization in subjects with carnitine palmitoyl-transferase 2 gene mutations
    • ørngreen MC, Dunø M, Ejstrup R, et al.: Fuel utilization in subjects with carnitine palmitoyl-transferase 2 gene mutations. Ann Neurol 2005, 57:60-66.
    • (2005) Ann Neurol , vol.57 , pp. 60-66
    • Orngreen, M.C.1    Dunø, M.2    Ejstrup, R.3
  • 14
    • 0347722567 scopus 로고    scopus 로고
    • No spontaneous second wind in muscle phosphofructokinase deficiency
    • Haller RG, Vissing J: No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology 2004, 62:82-86.
    • (2004) Neurology , vol.62 , pp. 82-86
    • Haller, R.G.1    Vissing, J.2
  • 15
    • 0347517831 scopus 로고    scopus 로고
    • The effect of oral sucrose on exercise tolerance in patients with McArdle's disease
    • Vissing J, Haller RG: The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. N Engl J Med 2003, 349:2503-2509.
    • (2003) N Engl J Med , vol.349 , pp. 2503-2509
    • Vissing, J.1    Haller, R.G.2
  • 16
    • 25144492102 scopus 로고    scopus 로고
    • Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency
    • Vissing J, Quistorff B, Haller RG: Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. Arch Neurol 2005, 62:1440-1443.
    • (2005) Arch Neurol , vol.62 , pp. 1440-1443
    • Vissing, J.1    Quistorff, B.2    Haller, R.G.3
  • 17
    • 39449113093 scopus 로고    scopus 로고
    • Tarui disease and distal glycogenoses: Clinical and genetic update
    • Toscano A, Musumeci O: Tarui disease and distal glycogenoses: Clinical and genetic update. Acta Myol 2007, 26:105-107.
    • (2007) Acta Myol , vol.26 , pp. 105-107
    • Toscano, A.1    Musumeci, O.2
  • 18
    • 33845499042 scopus 로고    scopus 로고
    • PGK deficiency
    • Beutler E: PGK deficiency. Br J Haematol 2007, 136:3-11.
    • (2007) Br J Haematol , vol.136 , pp. 3-11
    • Beutler, E.1
  • 20
    • 84880996857 scopus 로고    scopus 로고
    • Danon disease: Case report and detection of new mutation
    • Epub ahead of print
    • Regelsberger G, Höftberger R, Pickl WF, et al.: Danon disease: Case report and detection of new mutation. J Inherit Metab Dis 2009 Jul 7 (Epub ahead of print).
    • (2009) J Inherit Metab Dis , vol.7
    • Regelsberger, G.1    Höftberger, R.2    Pickl, W.F.3
  • 21
    • 0842282798 scopus 로고    scopus 로고
    • Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome
    • Klein CJ, Boes CJ, Chapin JE, et al.: Adult polyglucosan body disease: Case description of an expanding genetic and clinical syndrome. Muscle Nerve 2004, 29:323-328.
    • (2004) Muscle Nerve , vol.29 , pp. 323-328
    • Klein, C.J.1    Boes, C.J.2    Chapin, J.E.3
  • 22
    • 33644869707 scopus 로고    scopus 로고
    • Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain
    • Noel N, Flanagan JM, Ramirez Bajo MJ, et al.: Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. J Haematol 2006, 132:523-529.
    • (2006) J Haematol , vol.132 , pp. 523-529
    • Noel, N.1    Flanagan, J.M.2    Ramirez Bajo, M.J.3
  • 23
    • 0030054818 scopus 로고    scopus 로고
    • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
    • Shen J, Bao Y, Liu HM, et al.: Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996, 98:352-357.
    • (1996) J Clin Invest , vol.98 , pp. 352-357
    • Shen, J.1    Bao, Y.2    Liu, H.M.3
  • 25
    • 53549106330 scopus 로고    scopus 로고
    • Lipid storage myopathies
    • This article provides an excellent update on lipid storage myopathies
    • Bruno C, DiMauro S: Lipid storage myopathies. Curr Opin Neurol 2008, 21:601-606. This article provides an excellent update on lipid storage myopathies.
    • (2008) Curr Opin Neurol , vol.21 , pp. 601-606
    • Bruno, C.1    DiMauro, S.2
  • 26
    • 0015800677 scopus 로고
    • Muscle carnitine palmityltransferase deficiency and myoglobinuria
    • DiMauro S, DiMauro PM: Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 1973, 182:929-931.
    • (1973) Science , vol.182 , pp. 929-931
    • DiMauro, S.1    DiMauro, P.M.2
  • 27
    • 0041469962 scopus 로고    scopus 로고
    • Very-long-chain acyl- CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult
    • Hamano H, Shinohara Y, Takizawa S, et al.: Very-long-chain acyl- CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult. Rinsho Shinkeigaku 2003, 43:253-257.
    • (2003) Rinsho Shinkeigaku , vol.43 , pp. 253-257
    • Hamano, H.1    Shinohara, Y.2    Takizawa, S.3
  • 28
    • 0037388469 scopus 로고    scopus 로고
    • Late-onset form of betaelectron transfer flavoprotein deficiency
    • Curcoy A, Olsen RK, Ribes A, et al.: Late-onset form of betaelectron transfer flavoprotein deficiency. Mol Genet Metab 2003, 78:247-249.
    • (2003) Mol Genet Metab , vol.78 , pp. 247-249
    • Curcoy, A.1    Olsen, R.K.2    Ribes, A.3
  • 29
    • 33644921803 scopus 로고    scopus 로고
    • Coenzyme Q10 deficiency and isolated myopathy
    • Horvath R, Schneiderat P, Schoser BG, et al.: Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006, 66:253-255.
    • (2006) Neurology , vol.66 , pp. 253-255
    • Horvath, R.1    Schneiderat, P.2    Schoser, B.G.3
  • 30
    • 34248171499 scopus 로고    scopus 로고
    • The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electrontransferring- flavoprotein dehydrogenase (ETFDH) gene
    • This is the first documentation of ETFdehydrogenase mutation riboflavin-responsive MADD, indicating that this disorder and the myopathic form of CoQ10 deficiency may be allelic diseases
    • Gempel K, Topaloglu H, Talim B, et al.: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electrontransferring- flavoprotein dehydrogenase (ETFDH) gene. Brain 2007, 130:2037-2044. This is the first documentation of ETFdehydrogenase mutation riboflavin-responsive MADD, indicating that this disorder and the myopathic form of CoQ10 deficiency may be allelic diseases.
    • (2007) Brain , vol.130 , pp. 2037-2044
    • Gempel, K.1    Topaloglu, H.2    Talim, B.3
  • 31
    • 0032576724 scopus 로고    scopus 로고
    • Energy transduction in ATP synthase
    • Elston T, Wang H, Oster G: Energy transduction in ATP synthase. Nature 1998, 391:510-513.
    • (1998) Nature , vol.391 , pp. 510-513
    • Elston, T.1    Wang, H.2    Oster, G.3
  • 32
    • 0035910414 scopus 로고    scopus 로고
    • The rotary machine in the cell, ATP synthase
    • DOI 10.1074/jbc.R000021200
    • Noji H, Yoshida M: The rotary machine of the cell, ATP synthase. J Biol Chem 2001, 276:1665-1668. (Pubitemid 32109632)
    • (2001) Journal of Biological Chemistry , vol.276 , Issue.3 , pp. 1665-1668
    • Noji, H.1    Yoshida, M.2
  • 33
    • 48249156188 scopus 로고    scopus 로고
    • Mitochondrial disorders in the nervous system
    • This is an excellent, comprehensive review of mitochondrial diseases
    • DiMauro S, Schon E: Mitochondrial disorders in the nervous system. Ann Rev Neurosci 2008, 31:91-123. This is an excellent, comprehensive review of mitochondrial diseases.
    • (2008) Ann Rev Neurosci , vol.31 , pp. 91-123
    • DiMauro, S.1    Schon, E.2
  • 34
    • 0034951975 scopus 로고    scopus 로고
    • Diseases caused by nuclear genes affecting mtDNA stability
    • Suomalainen A, Kaukonen J: Diseases caused by nuclear genes affecting mtDNA stability. Am J Med Genet 2001, 106:53-61.
    • (2001) Am J Med Genet , vol.106 , pp. 53-61
    • Suomalainen, A.1    Kaukonen, J.2
  • 35
    • 34250662313 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic signaling
    • Spinazzola A, Zeviani M: Disorders of nuclear-mitochondrial intergenomic signaling. Biosci Rep 2007, 27:39-51.
    • (2007) Biosci Rep , vol.27 , pp. 39-51
    • Spinazzola, A.1    Zeviani, M.2
  • 36
    • 65249092667 scopus 로고    scopus 로고
    • Pathogenic mutations of nuclear genes associated with mitochondrial disorders
    • Zhu X, Peng X, Guan MX, et al.: Pathogenic mutations of nuclear genes associated with mitochondrial disorders. Acta Biochim Biophys Sin (Shanghai) 2009, 41:179-187.
    • (2009) Acta Biochim Biophys Sin (Shanghai) , vol.41 , pp. 179-187
    • Zhu, X.1    Peng, X.2    Guan, M.X.3
  • 37
    • 0025873627 scopus 로고
    • Clinical syndromes associated with ragged red fibers
    • Rowland LP, Blake DM, Hirano M, et al.: Clinical syndromes associated with ragged red fibers. Rev Neurol 1991, 147:467-473.
    • (1991) Rev Neurol , vol.147 , pp. 467-473
    • Rowland, L.P.1    Blake, D.M.2    Hirano, M.3
  • 38
    • 33744869653 scopus 로고    scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S, et al.: Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1998, 51:1525-1533.
    • (1998) Neurology , vol.51 , pp. 1525-1533
    • Zeviani, M.1    Moraes, C.T.2    DiMauro, S.3
  • 39
    • 54949142139 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: Basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
    • Sproule DM, Kaufmann P: Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: Basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008, 1142:133-158.
    • (2008) Ann N Y Acad Sci , vol.1142 , pp. 133-158
    • Sproule, D.M.1    Kaufmann, P.2
  • 40
    • 0025666322 scopus 로고
    • A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S: A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 41
    • 63749097263 scopus 로고    scopus 로고
    • Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
    • Mehrazin M, Shanske S, Kaufmann P, et al.: Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A 2009, 149:584-587.
    • (2009) Am J Med Genet A , vol.149 , pp. 584-587
    • Mehrazin, M.1    Shanske, S.2    Kaufmann, P.3
  • 42
    • 4644310825 scopus 로고    scopus 로고
    • Noninvasive diagnosis of the 3243A> mitochondrial DNA mutation using urinary epithelial cells
    • McDonnell MT, Schaefer AM, Blakely EL: Noninvasive diagnosis of the 3243A> mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet 2004, 12:778-781.
    • (2004) Eur J Hum Genet , vol.12 , pp. 778-781
    • McDonnell, M.T.1    Schaefer, A.M.2    Blakely, E.L.3
  • 43
    • 4644269393 scopus 로고    scopus 로고
    • Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis
    • Shanske S: Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis. Am J Med Genet 2004, 130:134-137.
    • (2004) Am J Med Genet , vol.130 , pp. 134-137
    • Shanske, S.1
  • 44
    • 67650747339 scopus 로고    scopus 로고
    • Association of the MELAS m.3243A> mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection
    • Marotta R, Reardon K, McKelvie PA, et al.: Association of the MELAS m.3243A> mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection. J Clin Neurosci 2009, 16:1223-1225.
    • (2009) J Clin Neurosci , vol.16 , pp. 1223-1225
    • Marotta, R.1    Reardon, K.2    McKelvie, P.A.3
  • 45
    • 49749127253 scopus 로고    scopus 로고
    • Unusual presentations of patients with the mitochondrial MERRF mutation A8344G
    • Wiedemann FR, Bartels C, Kirches E, et al.: Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. Clin Neurol Neurosurg 2008, 110:859-863.
    • (2008) Clin Neurol Neurosurg , vol.110 , pp. 859-863
    • Wiedemann, F.R.1    Bartels, C.2    Kirches, E.3
  • 46
    • 1042302757 scopus 로고    scopus 로고
    • Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype
    • Melone MA, Tessa A, Petrini S, et al.: Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Arch Neurol 2004, 61:269-272.
    • (2004) Arch Neurol , vol.61 , pp. 269-272
    • Melone, M.A.1    Tessa, A.2    Petrini, S.3
  • 47
    • 0033619147 scopus 로고    scopus 로고
    • Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    • Andreu AL, Hanna MG, Reichmann H, et al.: Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999, 341:1037-1044.
    • (1999) N Engl J Med , vol.341 , pp. 1037-1044
    • Andreu, A.L.1    Hanna, M.G.2    Reichmann, H.3
  • 48
    • 62749171710 scopus 로고    scopus 로고
    • Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy
    • Bortot B, Barbi E, Biffi S,et al.: Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy. Mitochondrion 2009, 9:123-129.
    • (2009) Mitochondrion , vol.9 , pp. 123-129
    • Bortot, B.1    Barbi, E.2    Biffi, S.3
  • 49
    • 15244358138 scopus 로고    scopus 로고
    • Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance
    • Pulkes T, Liolitsa D, Wills AJ, et al.: Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. Neurology 2005, 64:1091-1092.
    • (2005) Neurology , vol.64 , pp. 1091-1092
    • Pulkes, T.1    Liolitsa, D.2    Wills, A.J.3
  • 51
    • 42649107130 scopus 로고    scopus 로고
    • A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance
    • Downham E, Winterthun S, Nakkestad HL, et al.: A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromusc Disord 2008, 18:310-314.
    • (2008) Neuromusc Disord , vol.18 , pp. 310-314
    • Downham, E.1    Winterthun, S.2    Nakkestad, H.L.3
  • 52
    • 0347721039 scopus 로고    scopus 로고
    • A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
    • McFarland R, Taylor RW, Chinnery PF, et al.: A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromusc Disord 2004, 14:162-166.
    • (2004) Neuromusc Disord , vol.14 , pp. 162-166
    • McFarland, R.1    Taylor, R.W.2    Chinnery, P.F.3
  • 53
    • 77953541116 scopus 로고    scopus 로고
    • Metabolic myopathies
    • Edited by Gilman S. San Diego, CA: Elsevier Academic Press
    • Hirano M: Metabolic myopathies. In Neurobiology of Disease. Edited by Gilman S. San Diego, CA: Elsevier Academic Press; 2007:947-956.
    • (2007) Neurobiology of Disease , pp. 947-956
    • Hirano, M.1


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