Isoenzyme pattern of phosphorylase in white blood cells and fibroblasts from patients with liver phosphorylase deficiency.

Isoenzyme patterns of phosphorylase in white blood cells and cultured fibroblasts of a patient affected with liver-type phosphorylase deficiency were studied. Three bands were observed with electrofocusing of white blood cells and liver from controls. In the white blood cells of the patient only two bands were observed. Patient and control fibroblasts showed two bands, probably identical to the two bands observed in the patient's white blood cells. These results indicate that the liver-type phosphorylase is not expressed in the cultured fibroblasts.