title: Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.
abstract: 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.
authors.affiliation: Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany. dorothea.haas@med.uni-heidelberg.de
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: P
authors.initials: P
authors.lastname: Niklowitz
authors.forename: F
authors.initials: F
authors.lastname: Hörster
authors.forename: E R
authors.initials: ER
authors.lastname: Baumgartner
authors.forename: C
authors.initials: C
authors.lastname: Prasad
authors.forename: R J
authors.initials: RJ
authors.lastname: Rodenburg
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: T
authors.initials: T
authors.lastname: Menke
authors.forename: J G
authors.initials: JG
authors.lastname: Okun
mesh_terms: D016022:Case-Control Studies; D002478:Cells, Cultured; D015536:Down-Regulation; D005260:Female; D005347:Fibroblasts / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology*; D008764:Methylmalonic Acid / Q000652:urine; D054078:Mevalonate Kinase Deficiency / Q000378:metabolism / Q000473:pathology*; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000378:metabolism
chemical_list: D014451:Ubiquinone; D008764:Methylmalonic Acid; C024989:coenzyme Q10