文章基本信息

标题：Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome
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作者：W. Todd Cade ; Kathryn L. Bohnert ; Adam J. Bittel 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：25
页码：100675
DOI：10.1016/j.ymgmr.2020.100675
出版社：Elsevier B.V.
摘要：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.
关键词：Barth syndrome ; Amino acid ; Mitochondria ; Metabolism