{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T19:00:36Z","timestamp":1787857236381,"version":"build-2784847793"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T00:00:00Z","timestamp":1753747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T00:00:00Z","timestamp":1753747200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Long\u2010chain fatty acid oxidation disorders are characterized by rhabdomyolysis, often provoked by physical exercise. For the newborn screening (NBS) cohort, it remains uncertain to what extent they will develop the myopathic phenotype. This study assesses physiological responses to exercise, muscle symptoms, and activity levels in 14 adolescent lcFAOD patients (VLCADD (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20098), LCHADD (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20094), CPT2D (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20091) and LCKATD (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20091); ages 9.9\u201317.8\u2009years). Analyses of incremental and prolonged cardiopulmonary exercise tests, a symptom\u2010based questionnaire, and the Short Questionnaire to Assess Health\u2010enhancing physical activity were performed. The results revealed a decreased ventilatory anaerobic threshold compared to control data (z\u2010score\u2009\u2212\u20090.5 (0.8) [median (interquartile range (IQR))],\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.001) and, on average, a decreased relative peak oxygen uptake (z\u2010score\u2009\u2212\u20091.3 (2.8),\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.005) and relative peak work rate (z\u2010score\u2009\u2212\u20090.7 (1.3),\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.03). There were no adverse events during and following prolonged exercise under well\u2010fed circumstances (based on symptoms and post\u2010exercise creatine kinase). The symptom\u2010based questionnaire revealed that the presence of provoking factors (e.g., infection, inadequate intake) increased the risk of rhabdomyolysis during\/after exercise. Screening (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200911) and symptomatically (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20093) diagnosed patients showed normal levels of physical activity (medians: 3.5\u2009h per week) compared to their healthy peers (3.2\u2009h), despite debilitating muscle pain in 46% of the by screening and all of the symptomatically diagnosed patients. In conclusion, patients with seemingly normal exercise patterns reported debilitating muscle symptoms and rhabdomyolysis, especially when additional provoking factors were present. Exercise tests may provide a valuable tool to monitor and guide exercise potential in these new NBS cohorts.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70070","type":"journal-article","created":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T05:25:11Z","timestamp":1753853111000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long\u2010Chain Fatty Acid Oxidation Disorders"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4775-1760","authenticated-orcid":false,"given":"Marit","family":"Schwantje","sequence":"first","affiliation":[{"name":"Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"van Brussel","sequence":"additional","affiliation":[{"name":"Child Development and Exercise Center Wilhelmina Children's Hospital, University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Takken","sequence":"additional","affiliation":[{"name":"Child Development and Exercise Center Wilhelmina Children's Hospital, University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique G. M.","family":"de Sain\u2010van der Velden","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Wilhelmina Children's Hospital University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"Langeveld","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gepke","family":"Visser","sequence":"additional","affiliation":[{"name":"Emma Children's Hospital, Department of Pediatrics, Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology and Metabolism Amsterdam UMC, Location University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9147-2406","authenticated-orcid":false,"given":"Sabine A.","family":"Fuchs","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-018-9448-1"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.12997\/jla.2020.9.3.313"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12075"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ijo.0803774"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsm.2008.056499"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.10.001"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12644"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201611-912FR"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12217"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.7.1046"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.02.005"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.030"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.06.004"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph17030681"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(03)00220-8"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.12.028"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/edm2.385"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-021-00267-0"},{"key":"e_1_2_10_20_1","first-page":"12","volume-title":"Exercise Testing in Children: Applications in Health and Disease","author":"Godfrey S.","year":"1974"},{"key":"e_1_2_10_21_1","volume-title":"Pediatric Norms for Cardiopulmonary Exercise Testing","author":"Bongers B. 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