As in previous symposia, the major part of the presentations was devoted to that group of sphingolipidoses that was considered in the past under the heading of “Amaurotic Idiocies.” New clinical, pathological and biochemical data justify a different nosological interpretation. Infantile amaurotic idiocy (Tay-Sachs disease) considered in the recent past as a characteristic disease entity, includes at present three different conditions: 1) Classical Tay-Sachs disease or GM2-gangliosidosis I; 2) Landing’s disease or GM1 -gangliosidosis, which was the object of the presentations by Wolfe et al and by Landing himself; and 3) Sandhoff’s disease or GM2-gangliosidosis II. This last condition, a newcomer, was discussed extensively by several investigators, Jatzkewitz and Sandhoff from the Max-Planck Institute where the disease was identified, Kolodny from Harvard University and Desnick and colleagues from the University of Minnesota. From these reports, originating in various parts of the world, the disease can apparently be differentiated from Tay-Sachs disease by its pathology (because of the involvement of lung, spleen and hematopoietic system) and by enzymatic characteristics (lack of total hexosaminidase), but neither by the clinical features nor by chemical differences of the deposited gangliosides.
KeywordsAryl Sulfatase Enzymatic Defect Steroid Sulfate Cholesterol Sulfate Globoid Cell Leukodystrophy
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