Enzymatic diagnosis of patients with congenital lactic acidemia on cultured lymphoblastoid cells

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Congenital lactic acidemia is known to be heterogenous and to be caused by genetically determined defects in the activities of a variety of enzymes in the pyruvate metabolism. Therefore, it is necessary to assay the activities of these enzymes for the diagnosis. These systematic diagnosis have been usually performed by using skin fibroblasts.In this study, the various enzymes of pyruvate metabolism were investigated by measuring the activities of pyruvate dehydrogenase complex (PDHC). pyruvate carboxylase (PC), phosphoenol pyruvate carboxykinase, and respiratory chain enzyme in Epstein-Barrvirus-transformed human lymphoblastoid cells from normal controls, resulting that we could get the normal range of the activities of these enzymes.In patients with deficiency of PDHC or PC diagnosed by using fibroblasts, these defects could be also diagnosed by using cultured lymphoblastoid cells. Furthermore, patients with dysfunction of respiratory chain diagnosed by biopsied muscle were able to be diagnosed by using cultured lymphoblastoid cells. Thus, cultured lymphoblastoid cells are useful in investigating the dysfunction of pyruvate metabolism. Furthermore, it is easy to establish cultured lymphoblastoid cells as compared with skin fibroblasts. Therefore, lymphoblastoid cells lines are useful cells for the systematic diagnosis of congenital lactic acidemia.