Spectrum of metabolic myopathies

Corrado Angelini

Research output: Contribution to journalArticlepeer-review


Metabolic myopathies are disorders of utilization of carbohydrates or fat in muscles.The acute nature of energy failure is manifested either by a metabolic crisis with weakness, sometimes associated with respiratory failure, or by myoglobinuria. A typical disorder where permanent weakness occurs is glycogenosis type II (GSDII or Pompe disease) both in infantile and late-onset forms, where respiratory insufficiency is manifested by a large number of cases. In GSDII the pathogenetic mechanism is still poorly understood, and has to be attributed more to structural muscle alterations, possibly in correlation to macro-autophagy, rather than to energetic failure. This review is focused on recent advances about GSDII and its treatment, and the most recent notions about the management and treatment of other metabolic myopathies will be briefly reviewed, including glycogenosis type V (McArdle disease), glycogenosis type III (debrancher enzyme deficiency or Cori disease), CPT-II deficiency, and ETF-dehydrogenase deficiency (also known as riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency or RR-MADD). The discovery of the genetic defect in ETF dehydrogenase confirms the etiology of this syndrome. Other metabolic myopathies with massive lipid storage and weakness are carnitine deficiency, neutral lipid storage-myopathy (NLSD-M), besides RR-MADD. Enzyme replacement therapy is presented with critical consideration and for each of the lipid storage disorders, representative cases and their response to therapy is included. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

Original languageEnglish
Pages (from-to)615-621
Number of pages7
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Issue number4
Publication statusPublished - Apr 1 2015


  • Carnitine
  • Enzyme replacement therapy
  • Glycogenosis
  • Lipid storage myopathy

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Medicine(all)


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