title: Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.
abstract: OBJECTIVE
  To study CoQ(10) concentrations in muscle and fibroblast from 6 patients with a CoQ(10) deficiency syndrome.
  
  
  METHODS
  CoQ(10) was quantified by HPLC with electrochemical detection.
  
  
  RESULTS
  Four out of the 6 cases showed muscle CoQ(10) deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ(10) values in fibroblasts when compared with controls.
  
  
  CONCLUSIONS
  Biochemical study of CoQ(10) in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients.
authors.affiliation: Department of Clinical Biochemistry, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III. Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Sánchez-Alcázar
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Angeles Rodríguez
authors.initials: AR
authors.lastname: Hernández
authors.forename: Mario D
authors.initials: MD
authors.lastname: Cordero
authors.forename: Eva
authors.initials: E
authors.lastname: Trevisson
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004579:Electron Transport / Q000502:physiology; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology*; D013577:Syndrome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000032:analysis / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics
chemical_list: D015415:Biomarkers; D014451:Ubiquinone; C024989:coenzyme Q10