Abstract
The mucolipidoses (I,II,III) have been recognized as a separate entity of diseases by Spranger and Wiedemann (1970) who separated them on the basis of biochemical, histological and clinical findings from the group of the mucopolysaccharidoses. Mucolipidosis I was first described in 1968 by Spranger et al. under the name lipomucopolysaccharidosis. The overall clinical picture was that of a Hurler-Hunter phenotype with normal mucopolysacchariduria, a cherry-red macular spot and signs of a neuro-degenerative process involving mainly the white matter (Spranger et al. 1968). Mucolipidosis II is identical with the so called inclusion cell disease (I-cell disease) according to the numerous cytoplasmic inclusions in the cultured fibroblasts of the patients as described by Leroy et al. (1969, 1971). It also is clinically resembling Hurler’s syndrome with a remarkably stunted growth and severe retardation. Mucolipidosis III, formerly named pseudo-hurler polydystrophy by Maroteaux and Lamy (1966) presents clinically with short stature, mild Hurler-like dysmorphism and mental retardation. The term sialidosis was coined by Strecker et al. (1977) in analogy to mannosidosis and fucosidosis. He proposed to call the three types of mucolipidosis (I,II,II) sialidosis I, II, III respectively, in regard to the nature of the enzymatic defect and to the accumulation of sialic acid rich oligosaccharides.
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Wiesmann, U.N., Herschkowitz, N. (1980). Sialidoses (Mucolipidoses), Clinical Pictures. In: Svennerholm, L., Mandel, P., Dreyfus, H., Urban, PF. (eds) Structure and Function of Gangliosides. Advances in Experimental Medicine and Biology, vol 125. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7844-0_36
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DOI: https://doi.org/10.1007/978-1-4684-7844-0_36
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