coenzyme-q10 and Mevalonate-Kinase-Deficiency

coenzyme-q10 has been researched along with Mevalonate-Kinase-Deficiency* in 1 studies

Other Studies

1 other study(ies) available for coenzyme-q10 and Mevalonate-Kinase-Deficiency

Article	Year
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:4 The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or indirectly by inhibition of mitochondrial energy metabolism (MMA). We demonstrated that CoQ(10) concentrations were not significantly different from controls in MVA patients, suggesting that there may be upregulatory effects. On the other hand the CoQ(10) content in fibroblasts of patients with MMA was significantly reduced. Topics: Case-Control Studies; Cells, Cultured; Down-Regulation; Female; Fibroblasts; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Mevalonate Kinase Deficiency; Muscles; Ubiquinone	2009

Article

Year

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

Journal of inherited metabolic disease, 2009, Volume: 32, Issue:4

The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway of CoQ(10) synthesis (MVA) or indirectly by inhibition of mitochondrial energy metabolism (MMA). We demonstrated that CoQ(10) concentrations were not significantly different from controls in MVA patients, suggesting that there may be upregulatory effects. On the other hand the CoQ(10) content in fibroblasts of patients with MMA was significantly reduced.

Topics: Case-Control Studies; Cells, Cultured; Down-Regulation; Female; Fibroblasts; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Mevalonate Kinase Deficiency; Muscles; Ubiquinone

2009