{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T19:00:37Z","timestamp":1787857237584,"version":"build-2784847793"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,3,7]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder which typically manifests with muscle weakness. However, despite late-onset MADD being treatable, it is often misdiagnosed, due in part to the heterogeneity of presentations. We report a case of late-onset MADD manifesting first as a sensory neuropathy before progressing to myopathic symptoms and acute metabolic decompensation. Early diagnostic workup with acylcarnitine profiling and organic acid analysis was critical in patient outcome; metabolic decompensation and myopathic symptoms were completely reversed with riboflavin supplementation and dietary modification, although sensory neuropathy persisted. Clinical consideration of MADD as part of the differential diagnosis of neuropathy with myopathy is crucial for a timely diagnosis and treatment of MADD.<\/jats:p>","DOI":"10.1136\/bcr-2023-259192","type":"journal-article","created":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T11:00:18Z","timestamp":1710500418000},"page":"e259192","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Sensory neuropathy as a manifestation of multiple acyl-coenzyme A dehydrogenase deficiency"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7277-7564","authenticated-orcid":false,"given":"Jessica N","family":"Harding","sequence":"first","affiliation":[{"name":"University of Cambridge School of Clinical Medicine, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nika","family":"Mohannak","sequence":"additional","affiliation":[{"name":"The University of Notre Dame Australia School of Medicine, Fremantle, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoya","family":"Georgieva","sequence":"additional","affiliation":[{"name":"University of Cambridge Department of Clinical Neurosciences, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7562-2838","authenticated-orcid":false,"given":"Nicholas G","family":"Cunniffe","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,3,15]]},"reference":[{"key":"2025082708332344000_17.3.e259192.1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-014-0117-5","article-title":"Clinical and Genetical heterogeneity of late-onset multiple Acyl-coenzyme A dehydrogenase deficiency","volume":"9","author":"Gr\u00fcnert","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"2025082708332344000_17.3.e259192.2","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2017-001708"},{"key":"2025082708332344000_17.3.e259192.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.008"},{"key":"2025082708332344000_17.3.e259192.4","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/86.3.437"},{"key":"2025082708332344000_17.3.e259192.5","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.nmd.2015.12.002","article-title":"Severe sensory neuropathy in patients with adult-onset multiple Acyl-Coa dehydrogenase deficiency","volume":"26","author":"Wang","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"2025082708332344000_17.3.e259192.6","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.815523","article-title":"Diagnostic challenges in late onset multiple Acyl-Coa dehydrogenase deficiency: clinical, morphological, and genetic aspects","volume":"13","author":"Lupica","year":"2022","journal-title":"Front Neurol"},{"key":"2025082708332344000_17.3.e259192.7","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1097\/CM9.0000000000000032","article-title":"Clinical and muscle magnetic resonance image findings in patients with late-onset multiple Acyl-Coa dehydrogenase deficiency","volume":"132","author":"Hong","year":"2019","journal-title":"Chin Med J (Engl)"},{"key":"2025082708332344000_17.3.e259192.8","unstructured":"Prasun P , et al . Multiple Acyl-Coa dehydrogenase deficiency. In: Adam MP , Mirzaa GM , Pagon RA , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, 2020."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259192","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:33:27Z","timestamp":1756308807000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,3,15]]},"published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1136\/bcr-2023-259192"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259192","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]}}}