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Mol Genet Metab Rep. 2017 Sep 4;13:52-54. doi: 10.1016/j.ymgmr.2017.04.001. eCollection 2017 Dec.

Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism.

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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.


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.

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