title: Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases.
abstract: OBJECTIVE
  To evaluate the results of oxygen consumption measurement in lymphocytes for the diagnosis and treatment monitoring of pediatric patients with oxidative phosphorylation diseases.
  
  
  METHODS
  Twenty-four children with an oxidative phosphorylation disease were studied. Results were compared with those of 87 healthy children. Oxygen consumption measurements in digitonine-permeabilized lymphocytes incubated with pyruvate plus malate and succinate were performed in a Clark-type oxygen electrode.
  
  
  RESULTS
  A total of 58% of patients showed a decreased oxygen consumption in lymphocytes incubated with pyruvate. In 4 patients, this analysis was the unique initial biochemical test, which revealed an impaired mitochondrial energy metabolism. Significant differences were observed in lymphocytes incubated with pyruvate between patients and reference values (p<0.00005), and in lymphocytes incubated with pyruvate before and after treatment (p<0.05).
  
  
  CONCLUSIONS
  This test is useful for diagnosing oxidative phosphorylation diseases in patients who did not have other biochemical alterations, although false-negative results can be found. It is not useful for treatment monitoring.
authors.affiliation: Serveis de Department of Bioquímica i, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Artuch
authors.forename: C
authors.initials: C
authors.lastname: Colomé
authors.forename: A
authors.initials: A
authors.lastname: Playán
authors.forename: M J
authors.initials: MJ
authors.lastname: Alcaine
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: J
authors.initials: J
authors.lastname: Montoya
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: M
authors.initials: M
authors.lastname: Pineda
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000032:analysis; D004072:Digitonin / Q000494:pharmacology; D004579:Electron Transport; D004734:Energy Metabolism / Q000502:physiology; D005260:Female; D006801:Humans; D007202:Indicators and Reagents / Q000494:pharmacology; D007223:Infant; D008214:Lymphocytes / Q000737:chemistry / Q000187:drug effects / Q000378:metabolism*; D008293:Malates / Q000494:pharmacology; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism; D010085:Oxidative Phosphorylation; D010101:Oxygen Consumption / Q000502:physiology*; D011048:Polarography; D019289:Pyruvic Acid / Q000494:pharmacology; D012016:Reference Values; D019802:Succinic Acid / Q000494:pharmacology
chemical_list: D004272:DNA, Mitochondrial; D007202:Indicators and Reagents; D008293:Malates; C030298:malic acid; D019289:Pyruvic Acid; D019802:Succinic Acid; D004072:Digitonin