在患有巴斯综合征的青少年和年轻成年人的一个试点样本中，精氨酸动力学发生了改变。
Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome.
作者信息
Cade W Todd, Bohnert Kathryn L, Bittel Adam J, Chacko Shaji J, Patterson Bruce W, Pacak Christina A, Byrne Barry J, Vernon Hilary J, Reeds Dominic N
机构信息
Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO, United States.
Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
出版信息
Mol Genet Metab Rep. 2020 Nov 4;25:100675. doi: 10.1016/j.ymgmr.2020.100675. eCollection 2020 Dec.
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, < 0.01) and arginine non-oxidative disposal rate (0.64 ± 0.11 vs. 0.80 ± 0.03 μmol/kgFFM/min, < 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.
巴特综合征（BTHS）是一种罕见的X连锁心肌病，其特征是葡萄糖和脂质代谢异常，而关于氨基酸代谢的了解较少。这项初步研究对全身精氨酸动力学进行了表征，发现与对照组相比，患有BTHS的青少年和年轻人血浆中精氨酸的出现率较低（0.69±0.09对0.88±0.06μmol/kg去脂体重/分钟，<0.01）以及精氨酸非氧化处置率较低（0.64±0.11对0.80±0.03μmol/kg去脂体重/分钟，<0.02）。这项研究为更深入研究精氨酸以及潜在的其他氨基酸异常如何导致BTHS的病理和临床表现提供了基础。
Zotero 插件