Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases.
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.
Artuch
R
R
Serveis de Department of Bioquímica i, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Colomé
C
C
Playán
A
A
Alcaine
M J
MJ
Briones
P
P
Montoya
J
J
Vilaseca
M A
MA
Pineda
M
M
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
D004272:DNA, Mitochondrial; D007202:Indicators and Reagents; D008293:Malates; C030298:malic acid; D019289:Pyruvic Acid; D019802:Succinic Acid; D004072:Digitonin