Biochemical studies on lymphoblastoid cells with inherited N-acetyl-glucosamine 1-phosphotransferase deficiency (I-cell disease)

Lymphoblastoid cells transformed by Epstein-Barr virus from peripheral lymphocytes of normal individuals and I-cell disease (ICD) patients were used for the enzymic study of lysosomal hydrolases and N-acetylglucosamine 1-phosphotransferase. ICD lymphoblastoid cells secreted a larger amount of hydrolases into medium than normal cells, although the intracellular hydrolases were not deficient in ICD cells. The stimulating effect of 10 mM ammonium chloride on secretion of hydrolases was found only with normal cells, and not with ICD cells, indicating that the hydrolase molecule bearing mannose 6-phosphate was secreted. The ICD lymphoblastoid cells retained the enzymologic characteristics of both lysosomal hydrolases and N-acetylglucosamine 1-phosphotransferase seen in ICD fibroblasts, which allows us to study the pathophysiology of ICD in cells other than fibroblasts.