{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:37:22Z","timestamp":1790710642548,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,5,12]],"date-time":"2012-05-12T00:00:00Z","timestamp":1336780800000},"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":[[2013,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Barth syndrome (BTHS) is a rare X\u2010linked disorder that is characterized by mitochondrial abnormalities, infantile or childhood onset of cardioskeletal myopathy, and high mortality rates. It is currently unknown if BTHS related mitochondrial dysfunction results in substrate metabolism abnormalities and thereby contributes to cardioskeletal myopathy in patients with BTHS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Adolescents and young adults with BTHS (n\u2009=\u20095, 20\u2009\u00b1\u20094 yrs) and age and activity matched healthy controls (n\u2009=\u20095, 18\u2009\u00b1\u20094 yrs) underwent an hyperinsulinemic\u2010euglycemic clamp procedure with stable isotopically labeled tracers for measurement of lipolysis, fatty acid oxidation, glucose disposal, and whole\u2010body proteolysis rates; dual energy x\u2010ray absorptiometry for measurement of body composition and 2\u2010D and strain echocardiography for measurement of left ventricular function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Participants with BTHS had lower fat\u2010free mass (FFM) (BTHS: 31.4\u2009\u00b1\u20096.9 vs. Control: 46.7\u2009\u00b1\u20095.3 kg, p\u2009&lt;\u20090.005), lower systolic function (strain, BTHS: \u201015.2\u2009\u00b1\u20092.4 vs. Control: \u221219.0\u2009\u00b1\u20092.4 %, p\u2009&lt;\u20090.05), greater insulin\u2010stimulated glucose disposal rate per kg FFM (BTHS: 96.5\u2009\u00b1\u200916.3 vs. Control: 67.4\u2009\u00b1\u200917.6 \u03bcmol\/kgFFM\/min, p\u2009&lt;\u20090.05), lower basal (BTHS: 4.6\u2009\u00b1\u20092.7 vs. Control: 11.9\u2009\u00b1\u20094.4 \u03bcmol\/kgFM\/min, p\u2009&lt;\u20090.05) and hyperinsulinemic (BTHS: 1.6\u2009\u00b1\u20090.4 vs. Control: 3.6\u2009\u00b1\u20091.6 \u03bcmol\/kgFM\/min, p\u2009&lt;\u20090.05) lipolytic rate per kg fat mass (FM), and a trend towards higher basal leucine rate of appearance per kg FFM (BTHS: 271.4\u2009\u00b1\u200969.3 vs. Control: 193.1\u2009\u00b1\u200928.7 \u03bcmol\/kgFFM\/hr, p\u2009=\u20090.07) compared to controls. Higher basal leucine rate of appearance per kg FFM (i.e. whole\u2010body proteolytic rate) tended to be associated with lower left ventricular systolic strain (r\u2009=\u2009\u22120.57, p\u2009=\u20090.09).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Whole\u2010body fatty acid, glucose and amino acid metabolism kinetics when expressed per unit of body composition are altered and appear to be related to cardioskeletal myopathy in humans with BTHS. Further studies examining myocardial substrate metabolism and whole\u2010body substrate metabolism during increased energy demands (e.g., exercise) and their relationships to skeletal and cardiac function are recommended.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-012-9486-x","type":"journal-article","created":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T07:14:57Z","timestamp":1336720497000},"page":"91-101","source":"Crossref","is-referenced-by-count":46,"title":["Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young\u2010adults with Barth syndrome"],"prefix":"10.1002","volume":"36","author":[{"given":"W. 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