{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:57:38Z","timestamp":1753869458614,"version":"3.41.2"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Multiple acyl\u2010CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late\u2010onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late\u2010onset symptom debut at 52\u2009years of age. Over 5\u2009months, the patient deteriorated from asymptomatic to almost complete loss of ambulation. He had a substantial weight loss, head\u2010drop, progressive proximal limb and chewing weakness. Due to the rapid progression, amyotrophic lateral sclerosis, myositis, myasthenia gravis and a paraneoplastic syndrome in relation to underlying malignancy were considered first. A 2\u2010[<jats:sup>18<\/jats:sup>F] FDG PET\/CT scan was performed to exclude a paraneoplastic syndrome. The scan revealed diffuse and symmetric, pathologically high 2\u2010[<jats:sup>18<\/jats:sup>F] FDG\u2010uptake in the patient's neck, shoulder, and paravertebral muscles, which was later suggested as a sign of a metabolic myopathy. Muscle biopsy (Oil Red O staining) and acylcarnitine profile (elevated C5\u2010C18 acylcarnitines) findings suggested MADD, which was confirmed by genetic analysis showing biallelic variants in the <jats:italic>ETFDH<\/jats:italic> gene (c.1763A&gt;G, p.(His588Arg); c.897G&gt;A, p.(Leu299=)). After 1\u2009month of dietary intervention and daily diet supplements (riboflavin 400\u2009mg TID, levocarnitine 1\u2009g TID, Q10 150\u2009mg qD in two doses), the patient had almost recovered to his habitual level. A posttreatment muscle biopsy showed less disrupted ultrastructure of the myofibers. We learned from this case of rapid and late\u2010onset MADD that 2\u2010[<jats:sup>18<\/jats:sup>F] FDG PET\/CT, with diffuse and symmetric 2\u2010[<jats:sup>18<\/jats:sup>F] FDG\u2010uptake in skeletal muscle, can be valuable in clarifying this rare diagnosis.<\/jats:p>","DOI":"10.1002\/jmd2.12469","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T04:20:06Z","timestamp":1739420406000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["2\u2010[<scp><sup>18<\/sup>F<\/scp>] <scp>FDG PET<\/scp>\/<scp>CT<\/scp> in Rapid Late\u2010Onset Multiple Acyl\u2010<scp>CoA<\/scp> Dehydrogenase Deficiency: A Case Report"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6594-422X","authenticated-orcid":false,"given":"Astrid","family":"H\u00f8j","sequence":"first","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Holm\u2010Yildiz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Krag","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danijela","family":"Dejanovic","sequence":"additional","affiliation":[{"name":"Department of Clinical Physiology, Nuclear Medicine, and PET, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"van Overeem Hansen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Molecular Genetic Laboratory, Rigshospitalet University of Copenhagen  Copenhagen Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Molecular Genetic Laboratory, Rigshospitalet University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mette Cathrine","family":"\u00d8rngreen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoline","family":"L\u00f8kken","sequence":"additional","affiliation":[{"name":"Department of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,12]]},"reference":[{"volume-title":"GeneReviews\u00ae","year":"1993","author":"Prasun P.","key":"e_1_2_10_2_1"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.01.006"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010013\u20109671\u20106"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010014\u20100117\u20105"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2340\/16501977\u20100235"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/sms.12808"},{"key":"e_1_2_10_8_1","unstructured":"P.Prasun \u201cTable\u00a08. 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