Abnormalities in cerebral lipids and hepatic cholesterol glucuronide of a patient with GM1-gangliosidosis type 2.

: The brain tissue of a patient with GM1-gangliosidosis Type 2 showed an abnormal distribution pattern of lipids, that is, a marked increase in GM1-ganglioside, asialo-GM1 and cholesterol ester, a significant increase of glucosylceramide, lactosylceramide and asialo-GM2, and a decrease in galactocerebroside and sulfatide. On the other hand, the liver tissue showed a normal pattern of glycolipids, that is, the presence of normal amounts of glucosylceramide, lactosylceramide, globotriaosylceramide, globoside, hematoside (GM3) and GD3. However, it was found that the patient's liver contained a larger amount of cholesterol glucuronide than normal liver and that it was present only in the liver and not in the other tissues. This represents the first report of elevated cholesterol glucuronide in liver of GM1-gangliosidosis.