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.

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，但对氨基酸代谢的了解较少。该初步研究描述了全身精氨酸动力学特征，发现血浆中精氨酸出现率较低（0.69 ± 0.09 vs. 0.88 ± 0.06 μmol/kgFFM/min，p  < 0.01）和精氨酸非氧化处理率（0.64 ± 0.11 vs. 与对照组相比，患有 BTHS 的青少年和年轻人为0.80 ± 0.03 μmol/kgFFM/min，p < 0.02）。这项研究为更深入地研究精氨酸和潜在的其他氨基酸异常如何影响 BTHS 的病理和临床表现奠定了基础。