Taketomi T, Kunishita T, Hara A, Mizushima S
Jpn J Exp Med. 1983 Apr;53(2):109-16.
Biochemical analyses were performed on the myelin isolated from the brain tissue of a patient with maple syrup urine disease. He was mostly treated by dietary management from day 8 after his birth until he died at 4 years and 5 months of age. It was found that the myelin contained major proteolipid-protein and high molecular weight protein and a very minor basic protein. The lipid composition of the myelin showed a marked decrease in phosphatidylethanolamine, but there was no remarkable reduction of cerebroside and sulfatide as well as other phospholipids in the myelin. Although the ganglioside composition of the myelin indicated that GM1 was a major ganglioside just like in the normal myelin, the myelin had an abnormal composition of an higher proportion of GD3 and a lower proportion of GM4, GD1b and GT1b. However, overall fatty acid compositions of the myelin lipids seemed rather normal.
对从一名枫糖尿症患者脑组织中分离出的髓磷脂进行了生化分析。从出生后第8天起，他主要通过饮食管理进行治疗，直至4岁5个月时死亡。结果发现，该髓磷脂含有主要的蛋白脂蛋白和高分子量蛋白以及一种含量极少的碱性蛋白。髓磷脂的脂质组成显示磷脂酰乙醇胺显著减少，但髓磷脂中的脑苷脂、硫脂以及其他磷脂并无明显减少。虽然髓磷脂的神经节苷脂组成表明，GM1是主要的神经节苷脂，与正常髓磷脂一样，但该髓磷脂的组成异常，GD3比例较高，GM4、GD1b和GT1b比例较低。然而，髓磷脂脂质的总体脂肪酸组成似乎相当正常。
