Sialidosis mucolipidosis

The term mucolipidosis was introduced to denote diseases that combined features common to both mucopolysaccharidoses and sphingolipidoses (Chapter 24). Three mucolipidoses are listed in Table 48—7. In sialidosis (mucolipidosis I, ML-I), various oligosaccharides derived from glycoproteins and certain ganglio-sides can accumulate in tissues. I-cell disease (ML-II)... 

Dorland, L. Haverkamp, J. Viliegenthart, J.F. Strecker, G. Michalski, J.C. Foumet, B. Spik, G. Montreuil, J. 360-MHz H Nuclear-Magnetic-Resonance Spectroscopy of Sialyl-Oligosaccharides from Patients with Sialidosis (Mucolipidosis I and II). Eur. J. Biochem. 1978, 15 323-329. 

In addition to these two types of sialidosis, there are patients with a combined defect of neuraminidase and p-galactosidase (Wenger etal. 1978, Andria etal. 1978, OK.ADAetal. 1979), possibly caused by a common defect in the biosynthetic processing of the two enzymes (Hoogeveen etal. 1980). A neuraminidase deficiency has also been observed in patients with mucolipidosis II (I-cell disease) and mucolipidosis III (Strecker etal. 1976, Thomas etal. 1976). In these disorders, however, the neuraminidase deficiency is but one of many lysosomal hydrolase deficiencies, presumably due to a defect in the proper compart-mentalization of these enzymes (Neufeld 1974). 

Lieser, M., Harms, E., Kern, H., Bach, G., and Cantz, M., 1989, Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV, Biochem. J. 260 69-74. 

Sialidosis Two distinct clinical forms. The early onset form ( mucolipidosis I ) more severe with bony abnormalities, organomegaly, and neurological manifestations. Late-onset form with macular cherry red spots and intractable myoclonus with intact intellect Glycopeptides and oligosaccharides with terminal sialic acid Lysosomal sialidase (lysosomal a-neuramin idase)... 

---