Deficiency of neuraminidase in the sialidoses and the mucolipidoses.
Neuraminidase activity in cultured fibroblasts from patients either with various forms of sialidosis or with I-cell disease (ICD) or mucolipidosis (ML) III has been determined by both a colorimetric and a fluorometric method. The former applied to frozen fibroblast pellets demonstrated a specific deficiency of neuraminidase in patients with the sialidoses. The enzyme was also deficient in I-cells, as were other lysosomal hydrolases. With the fluorogenic substrate these data could be confirmed and extended, and elementary kinetics of neuraminidase studied. In unfrozen freshly harvested fibroblasts, neuraminidase activity was severalfold that in frozen aliquots. A comparative and simultaneous study could not reveal substantial differences between the residual neuraminidase activity found in the various clinical forms of sialidosis. And, in fibroblasts from patients with ICD, also called ML II, the deficiency of this enzyme is quantitatively similar to that in the sialidoses, but the residual activity in ML III is three times higher. In both ML II and ML III the defect is probably secondary to the unknown metabolic error.
D002478:Cells, Cultured; D003124:Colorimetry; D005347:Fibroblasts / Q000201:enzymology; D005470:Fluorometry; D006801:Humans; D009081:Mucolipidoses / Q000201:enzymology*; D009439:Neuraminidase / Q000172:deficiency*
D009439:Neuraminidase