Kirmse Brian, Cabrerra-Luque Juan, Ayyub Omar, Cusmano Kristina, Chapman Kimberly, Summar Marshall
University of Mississippi Medical Center, Department of Pediatrics, Jackson, MS, United States.
Children's National Health System, Division of Genetics & Metabolism, Washington, DC, United States.
Mol Genet Metab Rep. 2017 Sep 4;13:52-54. doi: 10.1016/j.ymgmr.2017.04.001. eCollection 2017 Dec.
Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasma FGF21 by ELISA in patients with and without IEM. FGF21 levels were higher in patients with IEM compared to without IEM (370 pg/dL vs. 0-65 pg/dL). Further study of FGF21 as a biomarker in IEM is warranted.
原发性线粒体疾病患者的成纤维细胞生长因子-21(FGF21)水平升高,但对于已知存在继发性线粒体功能障碍的先天性代谢缺陷病(IEM)患者,尚未进行相关研究。我们采用酶联免疫吸附测定法(ELISA)测量了有无IEM患者的血浆FGF21水平。与无IEM患者相比,IEM患者的FGF21水平更高(370 pg/dL对0 - 65 pg/dL)。有必要进一步研究FGF21作为IEM生物标志物的情况。