Symptomatic Evaluation of Metabolic Myopathies

cocukmetabolizma-5-1-2024

Fehime ERDEMa , Ebru CANDAa

aEge University Faculty of Medicine, Department of Pediatric Metabolism Diseases, İzmir, Türkiye

ABSTRACT
Metabolic myopathies are genetic disorders of impaired metabolism characterized by insufficient energy production as a result of glycogen, lipid or mitochondrial metabolism. Most cases present with exercise intolerance, rhabdomyolysis, and muscle weakness. The clinical examination is often normal between acute events. Hypotonia, hypoglycemia, encephalopathy, cardiomyopathy, Reye like syndrome, hepatosteatosis could be recognized as systemic involvement. The metabolic myopathies can be viewed as static or dynamic pattern from the clinical standpoint. This review focus on diagnostic approach of metabolic myopathy based on clinical symptoms.
Keywords: Myopathy; glycogenosis; mitochondrial disease; fatty acid oxidation

Referanslar

  1. Cohen BH. Mitochondrial and Metabolic Myopathies. Continuum (Minneap Minn). 2019;25(6):1732-66. [Crossref]  [PubMed]
  2. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci. 1951;10(1):13-35.
  3. Darras BT, Friedman NR: Metabolic myopathies: a clinical approach: part I. Pediatr Neurol. 2000;22:87-97. [Crossref]  [PubMed]
  4. Smith EC, El-Gharbawy A, Koeberl DD. Metabolic myopathies: clinical features and diagnostic approach. Rheum Dis Clin North Am. 2011;37(2):201-17. [Crossref]  [PubMed]
  5. van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis. 2009;10(3):97-121. [Crossref]  [PubMed]
  6. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep. 2010;10(2):118-26. [Crossref]  [PubMed]  [PMC]
  7. Martín MA, Lucia A, Arenas J, Andreu AL. Glycogen Storage Disease Type V. 2006 Apr 19 [updated 2019 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
  8. Wortmann RL, DiMauro S. Differentiating idiopathic inflammatory myopathies from metabolic myopathies. Rheum Dis Clin North Am. 2002;28:759-78. [Crossref]  [PubMed]
  9. DiMauro S, Lamperti C. Muscle glycogenoses. Muscle Nerve. 2001;24:984-99. [Crossref]  [PubMed]
  10. Eymard B, Laforêt P: Metabolic myopathies in adulthood. Features and clues for diagnosis [in French]. Rev Med Interne. 2001;22:328-37.
  11. Haller RG. Treatment of McArdle disease. Arch Neurol. 2000;57:923-4. [Crossref]  [PubMed]
  12. Walter J, Labrune P, Laforet P. The glycogen storage diseases and related disorder. In: Saudubray JM, Garcia-Cazorla A, eds. Inborn metabolic diseases. Berlin, Heidelberg: Springer; 2016. p. 121-35. [Crossref]
  13. Kanungo S, Wells K, Tribett T, El-Gharbawy A. Glycogen metabolism and glycogen storage disorders. Ann Transl Med. 2018;6(24):474. [Crossref]  [PubMed]  [PMC]
  14. Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, et al. Pompe disease: pathogenesis, molecular genetics and diagnosis. Aging (Albany NY). 2020;12(15):15856-74. [Crossref]  [PubMed]  [PMC]
  15. Morris AM, Spiekerkoetter U. Disorders of mitochondrial fatty acid oxidation and ribofavin metabolism. In: Saudubray JM, GarciaCazorla A, eds. Inborn metabolic diseases. Berlin, Heidelberg: Springer; 2016. p. 201-12. [Crossref]
  16. Parikh S, Goldstein A, Koenig MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689Y701. [Crossref]  [PubMed]  [PMC]
  17. Tarnopolsky MA. Metabolic Myopathies. Continuum (Minneap Minn). 2016; 22(6, Muscle and Neuromuscular Junction Disorders):1829-1851. [Crossref]  [PubMed]
  18. Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Diagnosis and Treatment of Mitochondrial Myopathies. Neurotherapeutics. 2018;15(4):943-53. [Crossref]  [PubMed]  [PMC]
  19. Gorman GS, Elson JL, Newman J, et al. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscul Disord. 2015;25(7):563-6. [Crossref]  [PubMed]  [PMC]
  20. Mochel F, Sedel F. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations. In: Saudubray JM, Baumgartner MR, Garcia-Cazorla A, Walter JH, eds. Inborn metabolic diseases. Berlin, Heidelberg: Springer; 2022. p.126-44. [Crossref]
  21. Miyake CY, Burrage L, Glinton K, Houck K, Hoyos-Martinez A, Graham B, et al. TANGO2 Deficiency. 2018 Jan 25 [updated 2023 Mar 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
  22. Pizzamiglio C, Lahiri N, Nirmalananthan N, et al. First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscul Disord. 2020;30:566-71. [Crossref]  [PubMed]