
Storage diseases in which the missing enzyme is one that degrades sphingolipids sphingomyelin, ceramides, gangliosides). In Tay Sachs disease the lesion is in hexosiminidase A, an enzyme that degrades ganglioside Gm2, in Gaucher's disease, glucocerebrosidase, in Niemann-Pick disease, sphingomyelinase. ... (18 Nov 1997) ...
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Storage diseases in which the missing enzyme is one that degrades sphingolipids (sphingomyelin, ceramides, gangliosides). In Tay-Sachs disease the lesion is in hexosiminidase A, an enzyme that degrades ganglioside Gm2; in Gaucher's disease, glucocerebrosidase; in Niemann-Pick disease, sphingomyelinase.
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lipidosis, singular; lipidoses, plural 1. Lipid storage disease. 2. Hereditary abnormality of lipid metabolism that results in abnormal amounts of lipid deposition.
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No exact match found.