球状细胞脑白质营养不良是一种全身性半乳糖基鞘氨醇（半乳糖脑苷脂）贮积病。
Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease.
作者信息
Kobayashi T, Shinoda H, Goto I, Yamanaka T, Suzuki Y
出版信息
Biochem Biophys Res Commun. 1987 Apr 14;144(1):41-6. doi: 10.1016/s0006-291x(87)80472-2.
Galactosylsphingosine (psychosine) in somatic organs from a patient with globoid cell leukodystrophy and from the twitcher mouse, an animal model of human globoid cell leukodystrophy was assayed. There was an abnormal accumulation of galactosylsphingosine as in nervous tissues, albeit the concentrations being lower than those in nervous tissues. Galactosylsphingosine accumulation in the kidney of the twitcher mouse increased with age. These findings indicate that globoid cell leukodystrophy is a generalized galactosylsphingosine storage disease.
对一名球形细胞脑白质营养不良患者以及人类球形细胞脑白质营养不良动物模型——抽搐小鼠的体细胞器官中的半乳糖基鞘氨醇（精神鞘氨醇）进行了测定。如同在神经组织中一样，半乳糖基鞘氨醇出现了异常蓄积，尽管其浓度低于神经组织中的浓度。抽搐小鼠肾脏中的半乳糖基鞘氨醇蓄积量随年龄增长而增加。这些发现表明，球形细胞脑白质营养不良是一种全身性的半乳糖基鞘氨醇贮积病。
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