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Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases.

Abstract：

OBJECTIVES:To evaluate the results of oxygen consumption measurement in lymphocytes for the diagnosis and treatment monitoring of pediatric patients with oxidative phosphorylation diseases. DESIGN AND 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.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Artuch R,Colomé C,Playán A,Alcaine MJ,Briones P,Montoya J,Vilaseca MA,Pineda M

doi

10.1016/s0009-9120(00)00137-5

subject

Has Abstract

pub_date

2000-08-01 00:00:00

pages

481-5

issue

6

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(00)00137-5

journal_volume

33

pub_type

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