Sialidosis (mucolipidosis I).
The term "sialidosis" is suggested for the deficiency of alpha-neuraminidase activity in peripheral leukocytes and cultured fibroblasts which results in a considerable urinary excretion of sialyl-oligosaccharides. This defect was found in two siblings with a mild form of mucolipidosis I. 12 sialyl-acid rich oligosacharides have been isolated from the urine of the patients. The structure of ten of them has been determined. The studies of the patients show a remarkable variability of the clinical expression of this disease. The two siblings exhibited a progressive reduction of visual acuity, red-green blindness, a bilateral cherry red macular spot, punctate opacities of the lens, and minimal neurological symptoms. Morphologically, vacuolized lymphocytes, refringent inclusions in cultured fibroblasts, numerous cytoplasmatic inclusions containing a fine protein-like reticulum and some osmiophilic granules mainly in Kupffer's cells were found.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D006801:Humans; D007728:Kupffer Cells / Q000648:ultrastructure; D007962:Leukocytes / Q000201:enzymology / Q000648:ultrastructure; D008099:Liver / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D009081:Mucolipidoses / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009439:Neuraminidase / Q000097:blood* / Q000172:deficiency; D009844:Oligosaccharides / Q000652:urine; D014786:Vision Disorders / Q000235:genetics
D009844:Oligosaccharides; D009439:Neuraminidase