Hagenfeldt L, Bollgren I, Venizelos N
Department of Clinical Chemistry, Karolinska Hospital, Stockholm, Sweden.
J Inherit Metab Dis. 1987;10(2):135-41. doi: 10.1007/BF01800038.
We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities of N-acetylaspartate in his urine. A high CSF/plasma concentration ratio of N-acetylaspartate indicates that this substance originates in the brain. Fibroblasts from the patient are deficient in aspartoacylase activity. It is proposed that the dysmyelination in the patient may be due to failure of N-acetylaspartate to serve as a carrier of acetyl groups from mitochondria to the cytosol for lipogenesis.
我们描述了一名患有精神运动发育迟缓及脑白质营养不良的男婴，其尿液中排泄大量的N-乙酰天门冬氨酸。脑脊液与血浆中N-乙酰天门冬氨酸的高浓度比值表明该物质源自大脑。患者的成纤维细胞缺乏天冬氨酸酰基转移酶活性。有人提出，患者的髓鞘形成异常可能是由于N-乙酰天门冬氨酸未能作为乙酰基团从线粒体转运至胞质溶胶以进行脂肪生成的载体所致。
