{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:05Z","timestamp":1777857005007,"version":"3.51.4"},"reference-count":149,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2021,1,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Metabolic myopathies are a heterogenous group of muscle diseases typically characterized by exercise intolerance, myalgia and progressive muscle weakness. Effective treatments for some of these diseases are available, but while our understanding of the pathogenesis of metabolic myopathies related to glycogen storage, lipid metabolism and \u03b2-oxidation is well established, evidence linking treatments with the precise causative genetic defect is lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>The objective of this study was to collate all published evidence on pharmacological therapies for the aforementioned metabolic myopathies and link this to the genetic mutation in a format amenable to databasing for further computational use in line with the principles of the \u201ctreatabolome\u201d project.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A systematic literature review was conducted to retrieve all levels of evidence examining the therapeutic efficacy of pharmacological treatments on metabolic myopathies related to glycogen storage and lipid metabolism. A key inclusion criterion was the availability of the genetic variant of the treated patients in order to link treatment outcome with the genetic defect.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Of the 1,085 articles initially identified, 268 full-text articles were assessed for eligibility, of which 87 were carried over into the final data extraction. The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency related to mutations in the ETFDH gene (15 articles) and systemic primary carnitine deficiency (8 articles). The most studied therapeutic management strategies for these diseases were enzyme replacement therapy, riboflavin, and carnitine supplementation, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This systematic review provides evidence for treatments of metabolic myopathies linked with the genetic defect in a computationally accessible format suitable for databasing in the treatabolome system, which will enable clinicians to acquire evidence on appropriate therapeutic options for their patient at the time of diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-200621","type":"journal-article","created":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T13:05:54Z","timestamp":1615295154000},"page":"401-417","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a \u2018Treatabolome\u2019"],"prefix":"10.1177","volume":"8","author":[{"given":"A.","family":"Manta","sequence":"first","affiliation":[{"name":"Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada"},{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Spendiff","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"},{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013University of Freiburg, Faculty of Medicine, Freiburg, Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Canada"},{"name":"Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,3,6]]},"reference":[{"key":"ref001","unstructured":"Allies in Rare Disease - Global Genes [Internet]. 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