Leroy's l-cell disease: markedly increased activity of plasma acid hydrolases.

Abstract

Abstract Acid phosphatase, acid phosphodiesterase IV, and 8 acid glycohydrolases were determined in plasma and fibroblasts from 5 patients with Leroy's I-cell disease, and 4 patients with mucopolysaccharidosis, types I, II, IIIa, and V. A 2- to 53-fold increase over the normal hydrolase activity was observed in plasma from patients with I-cell disease. Activities which were elevated in the plasma were conspicuously reduced in cultured fibroblasts from these patients. These results give substance to the leakage theory which has been proposed to explain increased hydrolase activity observed in the growth medium of fibroblasts from patients with I-cell disease. These findings on the plasma should help in diagnosing this reputedly rare condition.