ABNORMAL DENDRITIC DEVELOPMENT IN MAPLE SYRUP URINE DISEASE
ABNORMAL DENDRITIC DEVELOPMENT IN MAPLE SYRUP URINE DISEASE
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DOI：
10.1016/0887-8994(92)90038-z
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发表时间：
1992-03-01
影响因子：
3.8
通讯作者：
BECKER, LE
中科院分区：
文献类型：
--
作者：
KAMEI, A;TAKASHIMA, S;BECKER, LE
一个患有枫糖浆尿病的6岁男孩的神经病理学显示白色物质呈海绵状外观，脑干明显水肿。 Golgi研究表明神经元的方向异常以及树突和树棘的异常。 在二氢蝶啶还原酶缺乏症患者中观察到类似的变化。 氨基酸代谢紊乱可能与神经元迁移和成熟的终末阶段的改变有关。
The neuropathology of a 6-year-old boy with maple syrup urine disease revealed spongy appearance of the white matter and marked edema of the brainstem. Golgi studies demonstrated aberrant orientation of neurons together with abnormalities of dendrites and dendritic spines. Similar changes were observed in a patient with dihydropteridine reductase deficiency. Disorders of amino acid metabolism may be associated with alterations in the terminal stages of neuronal migration and maturation.