Abnormalities of cerebral lipids in GM1-gangliosidoses, infantile, juvenile, and chronic type.
Cerebral lipids of patients with GM1-gangliosidoses, infantile, juvenile, and chronic type which are caused by deficiency of beta-galactosidase, were examined and compared to each other. The infantile type demonstrated abnormal accumulation of GM1 and asialo-GM1 in contrast with marked decrease in such major cerebral lipids as cholesterol, phospholipids, cerebroside, and sulfatide. It was also noted that significant amounts of such unusual lipids as free fatty acids, GlcCer, LacCer, GbOse3Cer, and GbOse-4Cer plus nLcOse4Cer were found in the brain. These findings pointed out that this infantile type might accompany a severe cerebral dysgenesis with poor myelination. The juvenile type also showed marked increase in GM1 and asialo-GM1, but the decrease in cholesterol, phospholipids, cerebroside, and sulfatide was not so much as the infantile type. These findings along with the occurrence of cholesterol ester suggested that the brain caused progressive demyelination after the immature myelin appeared. An autopsized brain tissue of a male patient who was eventually diagnosed as a case of GM1-gangliosidosis chronic type after his death, showed some accumulation of GM1 and asialo-GM1 particularly in the caudate nucleus and putamen, whereas it showed moderate amounts of GM1 in apparently normal gray and white matters. It seemed that there are no abnormal cerebral lipids except for gangliosides and some neutral glycosphingolipids in the chronic type.
D000328:Adult; D000367:Age Factors; D001921:Brain / Q000378:metabolism*; D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D005677:G(M1) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000145:classification / Q000235:genetics / Q000378:metabolism*; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008297:Male; D010743:Phospholipids / Q000378:metabolism
D006028:Glycosphingolipids; D010743:Phospholipids; D005677:G(M1) Ganglioside