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This raises concerns about long-chain polyunsaturated fatty acid (LC-PUFA) status. The primary aim of this study is to evaluate plasma n\u20133 and n\u20136 fatty acid levels in MSUD patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This single-center, cross-sectional study included 16 MSUD patients and 22 unaffected siblings sharing a similar household and environmental background. Dietary intake was recorded and plasma fatty acid profiles were analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Dietary assessments revealed significantly lower intakes of total fat and cholesterol (both\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001) and n-3 PUFAs (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.036) in MSUD patients, with alpha-linolenic acid (ALA) intake as the only individual LC-PUFA significantly reduced (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.048). Plasma analysis showed significantly lower docosahexaenoic acid (DHA) levels in patients despite similar dietary DHA intake (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), while arachidonic acid and mead acid were significantly elevated (both\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). Although plasma DHA concentrations showed a moderate positive correlation with dietary ALA intake (r\u2009=\u20090.516,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.041), regression analysis showed that neither dietary ALA intake (B\u2009=\u20090.005,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.584) nor the dietary n-6\/n-3 PUFA ratio (B = \u22120.552,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.706) independently predicted plasma DHA levels. In the MSUD group, plasma DHA levels were positively associated with dietary leucine intake (r\u2009=\u20090.635,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.008) and plasma isoleucine concentrations (r\u2009=\u20090.524,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.037).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings provide evidence of DHA deficiency in MSUD patients, which may result from both inadequate dietary intake and changes in n-3 PUFA metabolism, highlighting the need to investigate additional contributing mechanisms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1038\/s41430-026-01774-7","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T07:35:21Z","timestamp":1781249721000},"page":"895-903","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evidence of docosahexaenoic acid deficiency in maple syrup urine disease: insights from plasma long-chain polyunsaturated fatty acid status"],"prefix":"10.1038","volume":"80","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7159-4008","authenticated-orcid":false,"given":"Tanyel","family":"Zubarioglu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-7720","authenticated-orcid":false,"given":"\u00d6zg\u00fcr","family":"Kasap\u00e7opur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9363-048X","authenticated-orcid":false,"given":"Sedanur","family":"Ak\u00e7a-Ye\u015fil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7487-1376","authenticated-orcid":false,"given":"Esra","family":"\u0130\u015fat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3315-5124","authenticated-orcid":false,"given":"Mehmet","family":"\u015eerif Cansever","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5170-5594","authenticated-orcid":false,"given":"Ertu\u011frul","family":"K\u0131yk\u0131m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7256-0750","authenticated-orcid":false,"given":"\u00c7i\u011fdem","family":"Aktu\u011flu-Zeybek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,12]]},"reference":[{"key":"1774_CR1","unstructured":"Strauss KA, Puffenberger EG, Carson VJ. 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