Deficient Ganglioside Biosynthesis: A Novel Human Sphingolipidosis
- 10 January 1975
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 187 (4171) , 68-70
- https://doi.org/10.1126/science.803227
Abstract
An unusual lipid storage disese is chracterized by the accumulation of hematoside (Gms3) in the patient's liver and brain. In contrast to the other sphingoliidoses, the accumulation of Gm3 is not the result of a defective catabolic reaction, but is the first disorder caused by deficiency in ganglioside biosynthesis to be described in man.Keywords
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