{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T10:12:17Z","timestamp":1649153537575},"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":" Zusammenfassung. Chronische M\u00fcdigkeit ist ein unspezifisches Symptom, das bei erwachsenen ambulanten Patientinnen und Patienten h\u00e4ufig auftritt. Anhaltende k\u00f6rperliche M\u00fcdigkeit, deren \u00c4tiologie nach Ausschluss der \u00fcblichen Ursachen unklar ist, sollte die Frage nach seltenen Krankheiten wie angeborene Stoffwechselst\u00f6rungen (IEM) aufwerfen. Das Hauptmerkmal der chronischen M\u00fcdigkeit bei IEM ist ihr dynamischer Charakter, der durch Situationen verschlimmert wird, die den Stoffwechsel erh\u00f6hen, wie k\u00f6rperliche Anstrengung, K\u00e4lte, Fasten oder biologischer Stress. Angesichts solcher klinischer Anzeichen ist es wichtig, eine gezielte Diagnostik durchzuf\u00fchren, um Patienten zu identifizieren, die wahrscheinlich eine unerw\u00fcnschte Arzneimittelwirkung haben, um sie an ein spezialisiertes Zentrum zu \u00fcberweisen. Zu den IEMs, die zu chronischer M\u00fcdigkeit f\u00fchren, geh\u00f6ren metabolische Myopathien wie Muskelglykogenose, Fetts\u00e4ure-Beta-Oxidationsst\u00f6rungen und mitochondriale Erkrankungen. Spezifische biochemische und\/oder molekulare Analysen erm\u00f6glichen es, die Diagnose zu stellen und ein multidisziplin\u00e4res Management einzurichten. <\/jats:p>","DOI":"10.1024\/1661-8157\/a003773","type":"journal-article","created":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T08:05:58Z","timestamp":1641369958000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["Chronische M\u00fcdigkeit: Wann liegt der Verdacht auf eine erbliche Stoffwechselerkrankung vor?"],"prefix":"10.1024","volume":"111","author":[{"given":"Aurel T.","family":"Tankeu","sequence":"first","affiliation":[{"name":"Zentrum f\u00fcr Molekularkrankheiten (CMM), Abteilung f\u00fcr genetische Medizin, Centre Hospitalier et Universitaire Vaudois (CHUV), Lausanne"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Tran","sequence":"additional","affiliation":[{"name":"Zentrum f\u00fcr Molekularkrankheiten (CMM), Abteilung f\u00fcr genetische Medizin, 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":"J\u2019ai envie de comprendre\u2026 La fatigue"},{"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","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-018-9455-2"},{"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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