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The Sphingolipidoses

  • Julian N. Kanfer
Part of the Handbook of Lipid Research book series (HLRE, volume 3)

Abstract

Heterogeneity exists in the clinical manifestation of most diseases or syndromes believed due to a deficiency of a single hydrolytic enzyme protein. Several of the enzymes responsible for the cleavage of the individual bonds present in the sphingolipids have been purified to homogeneity from human sources. Therefore, information concerning the physical properties, the amino acid composition and sequence for these proteins is limited. In some instances, there may be portions of the amino acid chain of a specific enzyme in which minor substitutions or alterations can occur resulting in only slight effect on the measured catalytic activity. Therefore, it may be impossible to distinguish one “normal” or “control” sample from another based solely upon the activity of the enzymes in crude cell-free assay systems. Experience in individual laboratories around the world has indicated that their “range for normals” for any specific enzyme may vary severalfold. This surprisingly large magnitude of difference may merely represent the “normal biological variation” among individuals. Alternatively, this might be ascribed to slight differences in the assay procedures. Limited studies with vertebrate enzymes suggest that heterozygosity may be inversely related to subunit number and directly to the chain length of the subunit. It is most likely that individual electrophoretic variations occur at general rather than catalytic sites and that there is greater heterozygosity in those enzymes with a greater number of general sites.(1) Perhaps it is more realistic merely to attempt to operationally distinguish between “pathological” and “nonpathological” tissue samples.

Keywords

Enzyme Replacement Therapy Culture Skin Fibroblast Metachromatic Leukodystrophy Amniotic Fluid Cell Gauche Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Plenum Press, New York 1983

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  • Julian N. Kanfer

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