{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T18:31:10Z","timestamp":1781289070138,"version":"3.54.1"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,3,9]],"date-time":"2010-03-09T00:00:00Z","timestamp":1268092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Individuals with maple syrup urine disease (MSUD) have impaired metabolism of branched\u2010chain amino acids (BCAA) valine, isoleucine, and leucine. Life\u2010long dietary therapy is recommended to restrict BCAA intake and thus prevent poor neurological outcomes and death. To maintain adequate nutritional status, the majority of protein and nutrients are derived from synthetic BCAA\u2010free medical foods with variable fatty acid content. Given the restrictive diet and the importance of omega\u20103 fatty acids, particularly docosahexaenoic acid (DHA), in neurological development, this study evaluated the dietary and fatty acid status of females of reproductive age with MSUD attending a metabolic camp. Healthy controls of similar age and sex were selected from existing normal laboratory data. Total lipid fatty acid concentration in plasma and erythrocytes was analyzed using gas chromatography\u2013mass spectroscopy. Participants with MSUD had normal to increased concentrations of plasma and erythrocyte alpha linolenic acid (ALA) but significantly lower concentrations of plasma and erythrocyte docosahexaenoic acid (DHA) as percent of total lipid fatty acids compared with controls (plasma DHA: MSUD 1.03\u2009\u00b1\u20090.35, controls 2.87\u2009\u00b1\u20091.08; <jats:italic>P<\/jats:italic>\u2009=\u20090.001; erythrocyte DHA: MSUD 2.58\u2009\u00b1\u20090.58, controls 3.66\u2009\u00b1\u20090.80; <jats:italic>P<\/jats:italic>\u2009=\u20090.011). Dietary records reflected negligible or no DHA intake over the 3\u2010day period prior to the blood draw (range 0\u20132 mg). These results suggest females of reproductive age with MSUD have lower blood DHA concentrations than age\u2010matched controls. In addition, the presence of ALA in medical foods and the background diet may not counter the lack of preformed DHA in the diet. The implications of these results warrant further investigation.<\/jats:p>","DOI":"10.1007\/s10545-010-9066-x","type":"journal-article","created":{"date-parts":[[2010,3,8]],"date-time":"2010-03-08T15:23:07Z","timestamp":1268061787000},"page":"121-127","source":"Crossref","is-referenced-by-count":11,"title":["Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease"],"prefix":"10.1002","volume":"33","author":[{"given":"Laura M.","family":"Mazer","sequence":"first","affiliation":[{"name":"Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah H. L.","family":"Yi","sequence":"additional","affiliation":[{"name":"Nutrition and Health Sciences Program, Graduate Division of Biological and Biomedical Sciences Emory University Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rani H.","family":"Singh","sequence":"additional","affiliation":[{"name":"Nutrition and Health Sciences Program, Graduate Division of Biological and Biomedical Sciences Emory University Atlanta GA USA"},{"name":"Department of Human Genetics Emory University School of Medicine Decatur GA USA"},{"name":"Emory Genetics 2165 N. 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