{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:35:21Z","timestamp":1784075721020,"version":"3.55.0"},"reference-count":15,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,4,28]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>Riboflavin, a vital water-soluble vitamin, serves as a cofactor for numerous enzymes involved in cellular energy metabolism. Riboflavin deficiency can lead to diverse clinical manifestations and metabolic changes that mimic multiple acyl-CoA dehydrogenase deficiency (MADD). We report a case of a preterm female infant dependent on total parenteral nutrition (TPN) with insufficient riboflavin intake. The infant exhibited clinical and biochemical features resembling MADD; however, molecular analysis revealed no pathogenic or likely pathogenic variants associated with MADD or riboflavin transporter defects. Treatment with riboflavin, L-carnitine and multivitamin supplementation resulted in the resolution of clinical and biochemical abnormalities within 1\u2009week. This case highlights that the transient MADD-like features were attributable to riboflavin deficiency induced by TPN.<\/jats:p>","DOI":"10.1136\/bcr-2025-265089","type":"journal-article","created":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T23:50:17Z","timestamp":1746489017000},"page":"e265089","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition"],"prefix":"10.1136","volume":"18","author":[{"given":"Ekkarit","family":"Panichsillaphakit","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phakwan","family":"Laohathai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhachdanai","family":"Dhachpramuk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nithiwat","family":"Vatanavicharn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,5,5]]},"reference":[{"key":"2025082801312703000_18.5.e265089.1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21399"},{"key":"2025082801312703000_18.5.e265089.2","unstructured":"Combs GF , McClung JP . 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Food Nutr Res 2023;67. doi:10.29219\/fnr.v67.10315","DOI":"10.29219\/fnr.v67.10315"},{"key":"2025082801312703000_18.5.e265089.13","unstructured":"Gropper SS , Smith JL , Carr TP . Water-soluble vitamins. In: Advanced nutrition and human metabolism. 8th edn. Boston, MA: Cengage, 2022: 346\u201352."},{"key":"2025082801312703000_18.5.e265089.14","doi-asserted-by":"crossref","unstructured":"HJ P . Riboflavin: physiology. In: Caballero B , Finglas PM , F T , eds. Encyclopedia of food and health. Volume 4: mus-ske. 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