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. 2013 Feb;108(2):119-24.
doi: 10.1016/j.ymgme.2012.11.283. Epub 2012 Dec 3.

Role of creatine as biomarker of mitochondrial diseases

Sonia Pajares  1 , Angela Arias, Judit García-Villoria, Paz Briones, Antonia Ribes
Affiliations

Role of creatine as biomarker of mitochondrial diseases

Sonia Pajares et al. Mol Genet Metab. 2013 Feb.

Abstract

Recent investigations have suggested creatine (Cr) as an additional biomarker of mitochondrial diseases. With the aim of corroborating previous findings, we have studied plasma Cr in a cohort of 33 patients with different mitochondrial diseases. Cr was clearly increased in 9 out of 33 patients. Therefore, positive patients represent only 28% of the total number, suggesting that Cr is not a sensitive biomarker of mitochondrial diseases although it does present an acceptable specificity (83%). High plasma Cr, together with other biomarkers, might be useful to reinforce the diagnosis of mitochondrial diseases.

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