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Volumn 10, Issue 3, 2010, Pages 338-345

Metabolic myopathies: The challenge of new treatments

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINOGLYCOSIDE ANTIBIOTIC AGENT; BEZAFIBRATE; CARNITINE PALMITOYLTRANSFERASE; CREATINE; DIPEPTIDYL CARBOXYPEPTIDASE; GENTAMICIN; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; PLACEBO; PYRIDOXINE; RAMIPRIL; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; SOMATOMEDIN B RECEPTOR; SUCROSE; ANTILIPEMIC AGENT; FATTY ACID;

EID: 77954656443     PISSN: 14714892     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.coph.2010.02.006     Document Type: Review
Times cited : (20)

References (59)
  • 2
    • 53249145658 scopus 로고    scopus 로고
    • Therapeutic approaches in glycogen storage disease type II (GSDII)/Pompe disease
    • Schoser B., Hill V., Raben N. Therapeutic approaches in glycogen storage disease type II (GSDII)/Pompe disease. Neurotherapeutics 2008, 5:569-578.
    • (2008) Neurotherapeutics , vol.5 , pp. 569-578
    • Schoser, B.1    Hill, V.2    Raben, N.3
  • 4
    • 34247575220 scopus 로고    scopus 로고
    • Late-onset GSDII with novel GAA gene mutation
    • Angelini C., Nascimbeni A.C. Late-onset GSDII with novel GAA gene mutation. Clin Genet 2008, 71:374-375.
    • (2008) Clin Genet , vol.71 , pp. 374-375
    • Angelini, C.1    Nascimbeni, A.C.2
  • 6
  • 7
    • 0034711136 scopus 로고    scopus 로고
    • Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation
    • Laforet P., Nicolino M., Eymard P.B., Pucch J.P. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000, 55:1122-1128.
    • (2000) Neurology , vol.55 , pp. 1122-1128
    • Laforet, P.1    Nicolino, M.2    Eymard, P.B.3    Pucch, J.P.4
  • 9
    • 39749132312 scopus 로고    scopus 로고
    • Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency
    • Nascimbeni A.C., Fanin M., Tasca E., Angelini C. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology 2008, 70:617-626.
    • (2008) Neurology , vol.70 , pp. 617-626
    • Nascimbeni, A.C.1    Fanin, M.2    Tasca, E.3    Angelini, C.4
  • 10
    • 34548613865 scopus 로고    scopus 로고
    • Role of autophagy in the pathogenesis of Pompe disease
    • Raben N., Roberts A., Plotz P.H. Role of autophagy in the pathogenesis of Pompe disease. Acta Myol 2007, 26:45-48.
    • (2007) Acta Myol , vol.26 , pp. 45-48
    • Raben, N.1    Roberts, A.2    Plotz, P.H.3
  • 12
    • 33644994280 scopus 로고    scopus 로고
    • Course of disability and respiratory function in untreated late-onset Pompe disease
    • Hagemans M.L., Hop W.J., Van Doorn P.A., Reuser A.J., Van der Ploeg A.T. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006, 66:581-583.
    • (2006) Neurology , vol.66 , pp. 581-583
    • Hagemans, M.L.1    Hop, W.J.2    Van Doorn, P.A.3    Reuser, A.J.4    Van der Ploeg, A.T.5
  • 13
    • 0014139606 scopus 로고
    • Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger
    • Hug G., Schubert W.K. Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J Cell Biol 1967, 35:C1-C6.
    • (1967) J Cell Biol , vol.35
    • Hug, G.1    Schubert, W.K.2
  • 15
    • 33845992187 scopus 로고    scopus 로고
    • Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy
    • Slonim A.E., Bulone L., Goldberg T., Minikes J., Slonim E., Galanko J., Martiniuk F. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve 2007, 35:70-77.
    • (2007) Muscle Nerve , vol.35 , pp. 70-77
    • Slonim, A.E.1    Bulone, L.2    Goldberg, T.3    Minikes, J.4    Slonim, E.5    Galanko, J.6    Martiniuk, F.7
  • 16
    • 46749139421 scopus 로고    scopus 로고
    • Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease
    • McVie-Wylie A.J., Lee K.L., Qiu H., Jin X., Do H., Gotschall R., Thurberg B.L., Rogers C., Raben N., O'Callaghan M., et al. Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease. Mol Genet Metab 2008, 94:448-455.
    • (2008) Mol Genet Metab , vol.94 , pp. 448-455
    • McVie-Wylie, A.J.1    Lee, K.L.2    Qiu, H.3    Jin, X.4    Do, H.5    Gotschall, R.6    Thurberg, B.L.7    Rogers, C.8    Raben, N.9    O'Callaghan, M.10
  • 24
    • 58349090094 scopus 로고    scopus 로고
    • Glycogen storage disease type II (Pompe disease)-influence of enzyme replacement therapy in adults
    • Merk T., Wibmer T., Schumann C., Krüger S. Glycogen storage disease type II (Pompe disease)-influence of enzyme replacement therapy in adults. Eur J Neurol 2009, 16:274-277.
    • (2009) Eur J Neurol , vol.16 , pp. 274-277
    • Merk, T.1    Wibmer, T.2    Schumann, C.3    Krüger, S.4
  • 25
    • 74849085443 scopus 로고    scopus 로고
    • Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
    • Strothotte S., Strigl-Pill N., Grunert B., Kornblum C., Eger K., Wessig C., Deschauer M., Breunig F., Glocker F.X., Vielhaber S., et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 2010, 257:91-97.
    • (2010) J Neurol , vol.257 , pp. 91-97
    • Strothotte, S.1    Strigl-Pill, N.2    Grunert, B.3    Kornblum, C.4    Eger, K.5    Wessig, C.6    Deschauer, M.7    Breunig, F.8    Glocker, F.X.9    Vielhaber, S.10
  • 26
  • 28
    • 33845186661 scopus 로고    scopus 로고
    • Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II
    • Okumiya T., Kroos M.A., Vliet L.V., Takeuchi H., Van der Ploeg A.T., Reuser A.J. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab 2007, 90:49-57.
    • (2007) Mol Genet Metab , vol.90 , pp. 49-57
    • Okumiya, T.1    Kroos, M.A.2    Vliet, L.V.3    Takeuchi, H.4    Van der Ploeg, A.T.5    Reuser, A.J.6
  • 30
    • 71749118872 scopus 로고    scopus 로고
    • The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase
    • Flanagan J.J., Rossi B., Tang K., Wu X., Mascioli K., Donaudy F., Tuzzi M.R., Fontana F., Cubellis M.V., Porto C., et al. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat 2009, 30:1683-1692.
    • (2009) Hum Mutat , vol.30 , pp. 1683-1692
    • Flanagan, J.J.1    Rossi, B.2    Tang, K.3    Wu, X.4    Mascioli, K.5    Donaudy, F.6    Tuzzi, M.R.7    Fontana, F.8    Cubellis, M.V.9    Porto, C.10
  • 31
    • 16444386608 scopus 로고    scopus 로고
    • McGraw-Hill Inc., New York, Myology, A.G. Engel, C. Franzini-Armstrong (Eds.)
    • DiMauro S., Hays A.P., Tsujino S. Nonlysosomal Glycogenosis 2004, 1535-1538. McGraw-Hill Inc., New York. Myology, A.G. Engel, C. Franzini-Armstrong (Eds.).
    • (2004) Nonlysosomal Glycogenosis , pp. 1535-1538
    • DiMauro, S.1    Hays, A.P.2    Tsujino, S.3
  • 32
    • 0036716959 scopus 로고    scopus 로고
    • Spontaneous " second wind" and glucose-induced second " second wind" in McArdle disease: oxidative mechanism
    • Haller R.G., Vissing J. Spontaneous " second wind" and glucose-induced second " second wind" in McArdle disease: oxidative mechanism. Arch Neurol 2002, 59:1395-1402.
    • (2002) Arch Neurol , vol.59 , pp. 1395-1402
    • Haller, R.G.1    Vissing, J.2
  • 33
    • 34249321269 scopus 로고    scopus 로고
    • 144th ENMC International Workshop: outcome measures in McArdle disease, 29 September-1 November 2006, Naarden, The Netherlands
    • Quinlivan R., Vissing J. 144th ENMC International Workshop: outcome measures in McArdle disease, 29 September-1 November 2006, Naarden, The Netherlands. Neuromusc Disord 2007, 17:494-498.
    • (2007) Neuromusc Disord , vol.17 , pp. 494-498
    • Quinlivan, R.1    Vissing, J.2
  • 34
    • 53049090233 scopus 로고    scopus 로고
    • Therapeutic options in other metabolic myopathies
    • Vorgerd M. Therapeutic options in other metabolic myopathies. Neurotherapeutics 2008, 5:579-582.
    • (2008) Neurotherapeutics , vol.5 , pp. 579-582
    • Vorgerd, M.1
  • 35
    • 0347517831 scopus 로고    scopus 로고
    • The effect of oral sucrose on exercise tolerance in patients with McArdle's disease
    • Vissing J., Haller R.G. 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
  • 36
    • 45149131139 scopus 로고    scopus 로고
    • Effect of oral sucrose shortly before exercise on work capacity in McArdle disease
    • Andersen S.T., Haller R.G., Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 2008, 65:786-789.
    • (2008) Arch Neurol , vol.65 , pp. 786-789
    • Andersen, S.T.1    Haller, R.G.2    Vissing, J.3
  • 37
    • 0021945881 scopus 로고
    • Myopathy in McArdle's syndrome. Improvement with a high-protein diet
    • Slonim A.E., Goans P.J. Myopathy in McArdle's syndrome. Improvement with a high-protein diet. N Engl J Med 1985, 312:355-359.
    • (1985) N Engl J Med , vol.312 , pp. 355-359
    • Slonim, A.E.1    Goans, P.J.2
  • 38
    • 34548625973 scopus 로고    scopus 로고
    • Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle
    • Vorgerd M., Zange J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myol 2007, 26:61-63.
    • (2007) Acta Myol , vol.26 , pp. 61-63
    • Vorgerd, M.1    Zange, J.2
  • 41
    • 53049093182 scopus 로고    scopus 로고
    • Carbohydrate-rich and protein-rich diets in McArdle disease: effect on exercise capacity
    • Andersen S.T., Vissing J. Carbohydrate-rich and protein-rich diets in McArdle disease: effect on exercise capacity. J Neurol Neurosurg Psychiatry 2008, 79:1359-1363.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 1359-1363
    • Andersen, S.T.1    Vissing, J.2
  • 42
    • 0036144373 scopus 로고    scopus 로고
    • Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study
    • Vorgerd M., Zange J., Kley R., Grehl T., Hüsing A., Jäger M., Müller K., Schröder R., Mortier W., Fabian K., et al. Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study. Arch Neurol 2002, 5:97-101.
    • (2002) Arch Neurol , vol.5 , pp. 97-101
    • Vorgerd, M.1    Zange, J.2    Kley, R.3    Grehl, T.4    Hüsing, A.5    Jäger, M.6    Müller, K.7    Schröder, R.8    Mortier, W.9    Fabian, K.10
  • 44
    • 33744797628 scopus 로고    scopus 로고
    • Aerobic conditioning: an effective therapy in McArdle's disease
    • Haller R.G., Wyrick P., Taivassalo T., Vissing J. Aerobic conditioning: an effective therapy in McArdle's disease. Ann Neurol 2006, 59:922-928.
    • (2006) Ann Neurol , vol.59 , pp. 922-928
    • Haller, R.G.1    Wyrick, P.2    Taivassalo, T.3    Vissing, J.4
  • 47
    • 34548602300 scopus 로고    scopus 로고
    • Chronic therapy for McArdle disease: the randomized trial with ACE inhibitor
    • Martinuzzi A., Liava A., Trevisi E., Antoniazzi L., Frare M. Chronic therapy for McArdle disease: the randomized trial with ACE inhibitor. Acta Myol 2007, 26:64-66.
    • (2007) Acta Myol , vol.26 , pp. 64-66
    • Martinuzzi, A.1    Liava, A.2    Trevisi, E.3    Antoniazzi, L.4    Frare, M.5
  • 49
    • 79952197946 scopus 로고    scopus 로고
    • Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)
    • Quinlivan R., Beynon R.J., Martinuzzi A. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev 2008, 16:CD003458.
    • (2008) Cochrane Database Syst Rev , vol.16
    • Quinlivan, R.1    Beynon, R.J.2    Martinuzzi, A.3
  • 51
    • 0032720705 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
    • Barton-Davis E.R., Cordier L., Shoturma D.I., Leland S.E., Sweeney H.L. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999, 104:375-381.
    • (1999) J Clin Invest , vol.104 , pp. 375-381
    • Barton-Davis, E.R.1    Cordier, L.2    Shoturma, D.I.3    Leland, S.E.4    Sweeney, H.L.5
  • 53
    • 0242497007 scopus 로고    scopus 로고
    • Carnitine palmitoyl transferase 2 deficiency: a clinical, biochemical, and molecular review
    • Siguake E., Rakheja D., Kitson K., Bennet M.J. Carnitine palmitoyl transferase 2 deficiency: a clinical, biochemical, and molecular review. Lab Invest 2003, 83:1543-1554.
    • (2003) Lab Invest , vol.83 , pp. 1543-1554
    • Siguake, E.1    Rakheja, D.2    Kitson, K.3    Bennet, M.J.4
  • 54
    • 0037044281 scopus 로고    scopus 로고
    • Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose
    • Ørngreen M.C., Olsen D.B., Vissing J. Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose. Neurology 2002, 59:1046-1051.
    • (2002) Neurology , vol.59 , pp. 1046-1051
    • Ørngreen, M.C.1    Olsen, D.B.2    Vissing, J.3
  • 55
    • 0041931022 scopus 로고    scopus 로고
    • Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency
    • Ørngreen M.C., Ejstrup R., Vissing J. Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. Neurology 2003, 61:559-561.
    • (2003) Neurology , vol.61 , pp. 559-561
    • Ørngreen, M.C.1    Ejstrup, R.2    Vissing, J.3
  • 56
    • 0141788824 scopus 로고    scopus 로고
    • Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate
    • Djouadi F., Bonnefont J.P., Thuillier L., Droin V., Khadom N., Munnich A., Bastin J. Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate. Pediatr Res 2003, 54:446-451.
    • (2003) Pediatr Res , vol.54 , pp. 446-451
    • Djouadi, F.1    Bonnefont, J.P.2    Thuillier, L.3    Droin, V.4    Khadom, N.5    Munnich, A.6    Bastin, J.7
  • 57
    • 24944563136 scopus 로고    scopus 로고
    • Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders
    • Djouadi F., Aubey F., Schlemmer D., Ruiter J.P., Wanders R.J., Strauss A.W., Bastin J. Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet 2005, 14:2695-2703.
    • (2005) Hum Mol Genet , vol.14 , pp. 2695-2703
    • Djouadi, F.1    Aubey, F.2    Schlemmer, D.3    Ruiter, J.P.4    Wanders, R.J.5    Strauss, A.W.6    Bastin, J.7
  • 59
    • 60849099038 scopus 로고    scopus 로고
    • Bezafibrate for an inborn mitochondrial beta-oxidation defect
    • Bonnefont J.P., Bastin J., Behin A., Djouadi F. Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med 2009, 360:838-840.
    • (2009) N Engl J Med , vol.360 , pp. 838-840
    • Bonnefont, J.P.1    Bastin, J.2    Behin, A.3    Djouadi, F.4


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