@article{684e02165cde43caa0847c9cd68bc4d0,
title = "Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome",
abstract = "Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism. This pilot study characterized whole-body arginine kinetics and found lower arginine rate of appearance into plasma (0.69 ± 0.09 vs. 0.88 ± 0.06 μmol/kgFFM/min, p < 0.01) and arginine non-oxidative disposal rate (0.64 ± 0.11 vs. 0.80 ± 0.03 μmol/kgFFM/min, p < 0.02) in adolescents and young adults with BTHS compared to Controls. This study provides a foundation for more in-depth studies on how arginine and potentially other amino acid abnormalities contribute to the pathology and clinical manifestations of BTHS.",
keywords = "Amino acid, Barth syndrome, Metabolism, Mitochondria",
author = "Cade, {W. Todd} and Bohnert, {Kathryn L.} and Bittel, {Adam J.} and Chacko, {Shaji J.} and Patterson, {Bruce W.} and Pacak, {Christina A.} and Byrne, {Barry J.} and Vernon, {Hilary J.} and Reeds, {Dominic N.}",
note = "Funding Information: This work was supported by the Barth Syndrome Foundation and National Institutes of HealthR01HL107406-01, R01HL136759, P30DK056341, P30DK020579, HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Funding Information: This work was supported by the Barth Syndrome Foundation and National Institutes of Health R01HL107406-01 , R01HL136759 , P30DK056341 , P30DK020579 , HD007434 and UL1TR000448 from the National Center for Research Resources and NIH Roadmap for Medical Research. Publisher Copyright: {\textcopyright} 2020",
year = "2020",
month = dec,
doi = "10.1016/j.ymgmr.2020.100675",
language = "English (US)",
volume = "25",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier BV",
}