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| Fragaki,Konstantina; Chaussenot,Annabelle; Benoist,Jean-François; Ait-El-Mkadem,Samira; Bannwarth,Sylvie; Rouzier,Cécile; Cochaud,Charlotte; Paquis-Flucklinger,Véronique. |
| BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC) spectrophotometric analysis, then confirmed by direct measurement of CoQ10 levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10 deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III) while MRC activities... |
| Tipo: Journal article |
Palavras-chave: Mitochondrial disease; CoQ10 deficiency; Respiratory chain; Spectrophotometry; LC-MSMS. |
| Ano: 2016 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100004 |
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