Abstract
In Sandhoff's disease, following a complete β-hexosaminidase deficiency, there is an accumulation of at least 3 different glycolipids. Upon electron microscopy, cultured fibroblasts from a patient with this condition contained a small number of lamellar inclusions. Major glycolipids in normal confluent cultured fibroblasts are ceramide trihexoside and hematoside. In 2 fibroblast lines from unrelated children with Sandhoff's disease, we detected a ganglioside with an Rf similar to GM2-ganglioside. Complete characterization has not yet been completed. Both 14C-mannosamine and 14C-glucosamine were incorporated into this lipid which thus contains sialic acid and hexosamine. On the basis of this composition, this glycolipid may represent GM2-ganglioside. This compound has never been detected in normal or pathological control fibroblasts, including infantile Tay-Sachs disease, or the other sphingolipidoses. (Supported by the Dept. Mental Hygiene, State of California and PHS Grant HD-04612.)
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Philippart, M., Nakatani, S., Vidailhet, M. et al. SYNTHESIS OF AN ABNORMAL GANGLIOSIDE BY SKIN FIBROBLASTS IN SANDHOFF'S DISEASE. Pediatr Res 8, 393 (1974). https://doi.org/10.1203/00006450-197404000-00320
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DOI: https://doi.org/10.1203/00006450-197404000-00320