title: Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis.
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.
mesh_terms: D001921:Brain / Q000378:metabolism; D002250:Carbon Radioisotopes; D005690:Galactose; D005732:Gangliosides / Q000096:biosynthesis / Q000172:deficiency*; D006602:Hexosyltransferases / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism; D008297:Male; D009439:Neuraminidase / Q000378:metabolism; D013106:Sphingolipidoses / Q000378:metabolism*; D014166:Transferases / Q000378:metabolism
chemical_list: D002250:Carbon Radioisotopes; D005732:Gangliosides; D014166:Transferases; D006602:Hexosyltransferases; D009439:Neuraminidase; D005690:Galactose