{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T09:48:48Z","timestamp":1761299328645,"version":"build-2065373602"},"reference-count":0,"publisher":"Bentham Science Publishers Ltd.","issue":"16","content-domain":{"domain":["eurekaselect.com"],"crossmark-restriction":true},"short-container-title":["EMIDDT"],"published-print":{"date-parts":[[2024,7,11]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Introduction: Glycogen storage disease type V (GSDV, MIM #232600) is an autosomal re-cessive metabolic myopathy caused by pathogenic variants in the PYGM gene. The characteristic symp-toms of exercise intolerance, myalgia, and cramps, which improve after a few minutes of rest, are fre-quently unrecognized in affected children. When there is clinical suspicion, the initial approach with a forearm exercise test has diagnostic value by detecting low post-exercise plasma lactate-to-ammonia ratio values. The diagnostic algorithm is followed by genetic testing if the results suggest myophosphor-ylase deficiency.<\/jats:p>\n                    <jats:p>Methods: This was a retrospective observational study conducted based on reviewing medical records of patients with GSDV in a tertiary hospital. We assessed demographic variables, including the timing of onset and diagnosis, relevant clinical characteristics, and whether genetic testing was performed, in-cluding its results.<\/jats:p>\n                    <jats:p>Results\/Case Report: Our goal was to review the GSDV cases in our center to assess our cohort's diag-nostic timing and clinical and genetic characteristics. We identified 28 patients from 24 families, three with consanguinity. The mean age at the time of the study was 43 years. While most (26\/28; 93%) re-called their first symptoms in childhood\/adolescence, only 25% (7\/28) were diagnosed then. All patients had exercise intolerance and CK elevation, while about half reported the second wind phenomenon. Ge-netic testing was performed in 22 patients, revealing biallelic PYGM variants (9 homozygous, 13 com-pound heterozygous) as the most common (p.R50*).<\/jats:p>\n                    <jats:p>Conclusion: GSDV is rare and presents in the pediatric age, with subtle manifestations often underesti-mated for decades. A late diagnosis may negatively impact the psychosocial development of affected children. It is essential to recognize some unique features that facilitate diagnosis: history of exercise intolerance, the second wind sign, and high resting serum CK levels. Identifying the disease-causing variants in PYGM is currently the gold standard for diagnosis as it is less invasive than performing a muscle biopsy, and may promptly diagnose the condition and avoid wrongful labelling of patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2174\/1871530323666230914122936","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T10:17:13Z","timestamp":1694686633000},"page":"28-28","update-policy":"https:\/\/doi.org\/10.2174\/bsp_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Re-sults from a Retrospective Observational Study in a Tertiary Hospital"],"prefix":"10.2174","volume":"24","author":[{"given":"A.","family":"Pereira","sequence":"first","affiliation":[{"name":"Pediatric Neurology, Centro Materno-Infantil do Norte, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Pediatrics, Hospital de Braga, Braga, Portugal"}]},{"given":"J.","family":"Diogo da Silva","sequence":"additional","affiliation":[{"name":"Genetics, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Life and Health Sciences Research Institute (ICVS), Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal"},{"name":"ICVS\/3B\u2019s \u2013 PT Government Associate Laboratory, ICVS\/3B\u2019s \u2013 PT Government Associate Laboratory, Braga\/Guimar\u00e3es, Portugal"}]},{"given":"A. Rita","family":"Soares","sequence":"additional","affiliation":[{"name":"Genetics, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sci-ences Institute, Porto University, Porto, Portugal"}]},{"given":"A.","family":"Guimas","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism, Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Internal Medicine, Department of Internal Medicine, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}]},{"given":"S.","family":"Rocha","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism, Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Internal Medicine, Department of Internal Medicine, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}]},{"given":"M.","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Unidade Corino de An-drade and Neurophysiology Department, Unidade Corino de Andrade and Neurophysiology Department, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"ERN-NMD, European Reference Network-Neuromuscular Diseases ERN-NMD, Porto, Portugal"}]},{"given":"C.","family":"Garrido","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Centro Materno-Infantil do Norte, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal;"},{"name":"ERN-NMD, European Reference Network-Neuromuscular Diseases ERN-NMD, Porto, Portugal"}]},{"given":"C.","family":"Azevedo Soares","sequence":"additional","affiliation":[{"name":"Genetics, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sci-ences Institute, Porto University, Porto, Portugal"},{"name":"Ci\u00eancias M\u00e9dicas, Depar-tamento de Ci\u00eancias M\u00e9dicas, Universidade de Aveiro, Aveiro, Portuga"}]},{"given":"I.","family":"Nunes","sequence":"additional","affiliation":[{"name":"Genetics, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}]},{"given":"A.","family":"Maria Fortuna","sequence":"additional","affiliation":[{"name":"Genetics, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sci-ences Institute, Porto University, Porto, Portugal"}]},{"given":"D.","family":"Quelhas","sequence":"additional","affiliation":[{"name":"Genetics, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sci-ences Institute, Porto University, Porto, Portugal"},{"name":"Reference Centre for Inborn Errors of Metabolism, Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}]},{"given":"S.","family":"Figueiroa","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Centro Materno-Infantil do Norte, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal;"}]},{"given":"R.","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Reference Centre for Inborn Errors of Metabolism, Reference Centre for Inborn Errors of Metabolism, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Internal Medicine, Department of Internal Medicine, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"Internal Medicine, Department of Internal Medicine, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"}]},{"given":"M.","family":"Santos","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Centro Materno-Infantil do Norte, Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, Porto, Portugal"},{"name":"ERN-NMD, European Reference Network-Neuromuscular Diseases ERN-NMD, Porto, Portugal;"},{"name":"Pediatric Neurology, Department of Pediatric Neurology-Neuromuscular 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