title: I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector.
abstract: It has been proposed that I-cell disease results from a primary deficiency of acid neuraminidase activity. Infection by influenza virus of fibroblasts from a patient with I-cell disease resulted in the production of abundant intracellular alpha2-3 neuraminidase activity. Despite electrophoretic evidence of desialylation of intracellular and fibroblast-secreted arylsulfatase (EC 3.1.6.1) and beta-hexosaminidase (EC 3.2.1.30) from the infected cells, there was no consequent alteration of the abnormal distribution of beta-hexosaminidase activity between the intracellular spaces characteristic of I-cell disease. This suggests that deficiency of  alpha2,3 neuraminidase activity is not the primary biochemical defect in I-cell disease.
mesh_terms: D001192:Arylsulfatases / Q000378:metabolism; D002472:Cell Transformation, Viral; D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D009980:Influenza A virus / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D009081:Mucolipidoses / Q000378:metabolism*; D009439:Neuraminidase / Q000172:deficiency* / Q000378:metabolism; D012794:Sialic Acids / Q000378:metabolism*
chemical_list: D012794:Sialic Acids; D001192:Arylsulfatases; D006596:Hexosaminidases; D009439:Neuraminidase