Current Advances of Treatment of Metabolic Myopathies

cocukmetabolizma-5-1-2024

Harun BAYRAKa , Fatih Süheyl EZGÜa

aGazi University Faculty of Medicine, Department of Pediatric Metabolism Diseases, Ankara, Türkiye

ABSTRACT
Metabolic myopathies encompass rare disorders resulting from defects in glycogenolysis, glycolysis, fatty acid transport and oxidation and energy production along the mitochondrial respiratory chain. Symptoms may involve multiple organs or be limited to skeletal muscle. The age of onset also varies widely, ranging from infancy to late-onset adult forms. The severity of symptoms correlates with residual enzyme activity. The greater the reduction in enzyme activity, the more severe the symptoms and the earlier the onset. Modification of current diagnostic protocols is now a realistic possibility given the availability of second generation sequencing. It is a difficult group to diagnose and treat. After molecular analysis and careful evaluation of the findings, some patients will receive a clear diagnosis. For patients without a clear diagnosis, further investigation through a specialized center is required. The primary goal of treatment is to avoid situations that strain the muscles and increase muscle pain and weakness, such as strenuous or prolonged exercise or exposure to extreme heat and dehydration.
Keywords: Muscle metabolism; metabolic myopathies; glycogen storage disorders; lipid storage diseases; mitochondrial myopathies

Referanslar

  1. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol. 2000;22(2):87-97. [Crossref]  [PubMed]
  2. Tarnopolsky MA. What can metabolic myopathies teach us about exercise physiology? Appl Physiol Nutr Metab. 2006;31(1):21-30. [Crossref]  [PubMed]
  3. Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev. 2014;2014(11):CD003458. [Crossref]  [PubMed]  [PMC]
  4. Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, et al. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res. 2011;70(6):638-41. [Crossref]  [PubMed]
  5. Angelini C, Nascimbeni AC, Semplicini C. Therapeutic advances in the management of Pompe disease and other metabolic myopathies. Ther Adv Neurol Disord. 2013;6(5):311-21. [Crossref]  [PubMed]  [PMC]
  6. Roe CR, Mochel F. Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. J Inherit Metab Dis. 2006;29(2-3):332-40. [Crossref]  [PubMed]
  7. Mah CS, Falk DJ, Germain SA, Kelley JS, Lewis MA, Cloutier DA, et al. Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease. Mol Ther. 2010;18(3):502-10. [Crossref]  [PubMed]  [PMC]
  8. ClinicalTrials.gov. A gene transfer study for late-onset pompe disease (RESOLUTE)- full text view. Clinicaltrials.gov; 2023. Available from: Accessed November 29, 2023. [Link]
  9. ClinicalTrials.gov. AAV2/8-LSPhGAA (ACTUS-101) in late-onset pompe disease- full text view. Clinicaltrials.gov; 2023. Available from: Accessed November 29, 2023. [Link]
  10. Clinicaltrials.gov. Gene transfer study in patients with late onset pompe disease- full text view. ClinicalTrials.gov; 2023. Available from: Accessed November 29, 2023. [Link]
  11. Gillingham MB, Weleber RG, Neuringer M, Connor WE, Mills M, van Calcar S, et al. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metab. 2005;86(1-2):124-33. [Crossref]  [PubMed]  [PMC]
  12. Rector RS, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: clinical implications and therapeutic approaches. Adv Drug Deliv Rev. 2008;60(13-14):1488-96. [Crossref]  [PubMed]  [PMC]
  13. Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I, et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 2009;19(3):212-6. [Crossref]  [PubMed]  [PMC]
  14. Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007;130(Pt 8):2037-44. [Crossref]  [PubMed]  [PMC]
  15. Roe CR, Yang BZ, Brunengraber H, Roe DS, Wallace M, Garritson BK. Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. Neurology. 2008;71(4):260-4. [Crossref]  [PubMed]  [PMC]
  16. Bonnefont JP, Bastin J, Behin A, Djouadi F. Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med. 2009;360(8):838-40. [Crossref]  [PubMed]
  17. Shiraishi H, Yamada K, Oki E, Ishige M, Fukao T, Hamada Y, et al. Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey. Mol Genet Metab Rep. 2019;20:100496. [Crossref]  [PubMed]  [PMC]
  18. Ørngreen MC, Madsen KL, Preisler N, Andersen G, Vissing J, Laforêt P. Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. Neurology. 2014;82(7):607-13. [Crossref]  [PubMed]  [PMC]
  19. Lefort B, Gouache E, Acquaviva C, Tardieu M, Benoist JF, Dumas JF, et al. Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts. Biochim Biophys Acta Mol Basis Dis. 2017;1863(6):1292-9. [Crossref]  [PubMed]
  20. Seminotti B, Leipnitz G, Karunanidhi A, Kochersperger C, Roginskaya VY, Basu S, et al. Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers. Hum Mol Genet. 2019;28(6):928-41. [Crossref]  [PubMed]  [PMC]
  21. Stone M, Tutto A, Tang Q, Leu J, Shen W, Mallory J, et al. AAV-mediated phenotypic correction of very long-chain acyl-CoA dehydrogenase (VLCAD) in mice. Poster at American Society for Gene & Cell Therapy(ASGCT) 25th Annual Meeting; May 16-19. 2022 Washington.
  22. Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, et al. Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation. Ophthalmol Ther. 2023;12(1):401-29. [Crossref]  [PubMed]  [PMC]
  23. Avula S, Parikh S, Demarest S, Kurz J, Gropman A. Treatment of mitochondrial disorders. Curr Treat Options Neurol. 2014;16(6):292. [Crossref]  [PubMed]  [PMC]
  24. Rudolph G, Dimitriadis K, Büchner B, Heck S, Al-Tamami J, Seidensticker F, et al. Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. J Neuroophthalmol. 2013;33(1):30-6. [Crossref]  [PubMed]  [PMC]
  25. Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, et al. Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Ann Neurol. 2019;86(2):293-303. [Crossref]  [PubMed]  [PMC]
  26. Hernandez-Voth A, Sayas Catalan J, Corral Blanco M, Castaño Mendez A, Martin MA, De Fuenmayor et al. Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy. BMJ Open Respir Res. 2020;7(1):e000774. [Crossref]  [PubMed]  [PMC]