Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III.

A method was developed for the determination of cerebrosides in 1 ml of plasma or 1 ml of packed erythrocytes. At least 90% of the cerebroside fraction consisted of glucosylceramide. In the erythrocytes, nothing but glucosylceramide was identified. The method was applied to plasma samples from 25 controls, 34 Gaucher Type III obligate carriers, 16 Gaucher Type III patients, 7 Gaucher Type I patients and 7 patients with myelogenous or lymphatic leukemia, as well as to erythrocyte samples from 20 controls, 6 Gaucher Type III obligate carriers, 16 Gaucher Type III patients and 6 Gaucher Type I patients. The concentration of plasma cerebroside was 11.4 +/- 4.2 (S.D.) in controls, 11.8 +/- 2.6 in Gaucher Type III carriers, 30.4 +/- 7.7 in Gaucher Type III patients and 21.8 +/- 6.7 mumol/l in Gaucher Type I patients. The Gaucher patients had significantly increased (p less than 0.001) plasma cerebroside values, while the plasma cerebroside concentration of the leukemic patients was only slightly increased, 14.7 +/- 5.7 mumol/l. In the packed erythrocyte pellet the corresponding values were: Controls 2.9 +/- 0.7, Gaucher Type III carriers 2.9 +/- 0.7, Gaucher Type III patients 9.2 +/- 2.4 and Gaucher Type I patients 6.5 +/- 2.7 mumol/l. The phospholipid concentration was the same in all the three Gaucher groups and was not significantly different from that in the controls.