{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T08:49:29Z","timestamp":1749199769671},"reference-count":32,"publisher":"Hogrefe Publishing Group","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Praxis"],"published-print":{"date-parts":[[2022,1]]},"abstract":" R\u00e9sum\u00e9. La fatigue chronique est un sympt\u00f4me peu sp\u00e9cifique, fr\u00e9quent en consultation ambulatoire de l\u2019adulte. Une fatigue physique persistante, d\u2019\u00e9tiologie ind\u00e9termin\u00e9e apr\u00e8s \u00e9limination des causes courantes, doit faire \u00e9voquer des maladies rares telles que les erreurs inn\u00e9es du m\u00e9tabolisme (EIM). La principale caract\u00e9ristique de la fatigue chronique dans les EIM est son caract\u00e8re dynamique, aggrav\u00e9e par les situations entrainant une augmentation du m\u00e9tabolisme telles que l\u2019effort physique, le froid, le je\u00fbne ou un stress biologique. Devant de tels indices cliniques, il est important d\u2019entreprendre une d\u00e9marche diagnostique orient\u00e9e permettant d\u2019identifier les patients susceptibles d\u2019avoir une EIM afin de les orienter vers un centre sp\u00e9cialis\u00e9. Les EIM entrainant une fatigue chronique sont les myopathies m\u00e9taboliques, notamment les glycog\u00e9noses musculaires, les troubles de la b\u00e9ta-oxydation des acides gras et les maladies mitochondriales. Des analyses biochimiques et\/ou mol\u00e9culaires sp\u00e9cifiques permettent de poser le diagnostic et de mettre en place une prise en charge pluridisciplinaire. <\/jats:p>","DOI":"10.1024\/1661-8157\/a003772","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T08:05:58Z","timestamp":1641369958000},"page":"38-43","source":"Crossref","is-referenced-by-count":1,"title":["Fatigue chronique: quand suspecter une maladie h\u00e9r\u00e9ditaire du m\u00e9tabolisme?"],"prefix":"10.1024","volume":"111","author":[{"given":"Aurel T.","family":"Tankeu","sequence":"first","affiliation":[{"name":"Centre des maladies mol\u00e9culaires (CMM), Service de M\u00e9decine G\u00e9n\u00e9tique, Centre Hospitalier et Universitaire Vaudois (CHUV), Lausanne"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Tran","sequence":"additional","affiliation":[{"name":"Centre des maladies mol\u00e9culaires (CMM), Service de M\u00e9decine G\u00e9n\u00e9tique, Centre Hospitalier et Universitaire Vaudois (CHUV), Lausanne"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"101","reference":[{"key":"c1","doi-asserted-by":"publisher","DOI":"10.14236\/jhi.v22i1.91"},{"key":"c2","doi-asserted-by":"publisher","DOI":"10.1007\/BF03168931"},{"key":"c3","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291700037387"},{"key":"c4","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.c4259"},{"key":"c5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)15794-2"},{"key":"c6","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.1031153"},{"key":"c7","author":"Gordon E","year":"2021","journal-title":"Ch\u00eane-Bourg; Revue m\u00e9dicale Suisse"},{"key":"c8","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0022-8"},{"key":"c9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01471-z"},{"key":"c10","first-page":"13","volume":"19","author":"Wilcox G","year":"2018","journal-title":"mars"},{"key":"c11","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.8-6-621"},{"key":"c12","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.69.1.5"},{"key":"c13","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2017-001708"},{"key":"c14","doi-asserted-by":"crossref","unstructured":"Tarnopolsky MA . 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Group M+H-Medecine et\n Hygiene. 2017. https:\/\/www.zora.uzh.ch\/id\/eprint\/ 150509; cit\u00e9 09.09.2021."},{"key":"c20","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00684-2"},{"key":"c21","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0b013e3181903126"},{"key":"c22","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00076.2015"},{"key":"c23","first-page":"13","volume":"10","author":"McArdle B","year":"1951","journal-title":"Clin Sci"},{"key":"c24","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04320.x"},{"key":"c25","doi-asserted-by":"publisher","DOI":"10.3810\/psm.2002.06.341"},{"key":"c26","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/109.6.1087"},{"key":"c27","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.01063.2013"},{"key":"c28","doi-asserted-by":"crossref","unstructured":"Cohen BH . 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