Hara A, Taketomi T
J Biochem. 1984 Oct;96(4):1051-9. doi: 10.1093/oxfordjournals.jbchem.a134922.
Glycosphingolipids from the liver, kidney, and spleen of a patient with type 1 II3-N-acetylneuraminosylgangliotetraosylceramide (GM1)-gangliosidosis were quantitatively analyzed. It was noted that large amounts of unusual glycosphingolipids other than GM1 ganglioside or gangliotetrasylceramide accumulated in the liver of the patient. Particularly, the prominent accumulation of III3-alpha-fucosylneolactotetraosylceramide, galactosylceramide I3-sulfate and cholesterol sulfate was observed in addition to a small but significant increase of galabiosylceramide and neolacto-or lactotetraosylceramide. None of these lipids except cholesterol sulfate can be detected in normal liver. None of the lipids accumulated in the liver can be the direct substrates for acid beta-galactosidase which is deficient in the patient. Thus, it was suggested that secondary effects due to the defect in acid beta-galactosidase might cause the abnormal accumulation of various lipids in the liver.
对一名患有I型II3 - N - 乙酰神经氨酸神经节苷脂四糖神经酰胺（GM1）神经节苷脂病患者的肝脏、肾脏和脾脏中的糖鞘脂进行了定量分析。结果发现，除了GM1神经节苷脂或神经节四糖神经酰胺外，大量异常糖鞘脂在患者肝脏中蓄积。特别是，除了半乳糖神经酰胺和新乳糖或乳糖四糖神经酰胺有少量但显著增加外，还观察到III3 - α - 岩藻糖基新乳糖四糖神经酰胺、硫酸I3 - 半乳糖神经酰胺和硫酸胆固醇的显著蓄积。在正常肝脏中，除了硫酸胆固醇外，这些脂质均无法检测到。肝脏中蓄积的脂质都不是患者体内缺乏的酸性β - 半乳糖苷酶的直接底物。因此，有人提出，酸性β - 半乳糖苷酶缺陷引起的继发效应可能导致肝脏中各种脂质的异常蓄积。
