Kvittingen E A, Guldal G, Børsting S, Skalpe I O, Stokke O, Jellum E
Clin Chim Acta. 1986 Aug 15;158(3):217-27. doi: 10.1016/0009-8981(86)90285-8.
Excessive excretion of N-acetylaspartic acid in urine is reported in a 6-yr-old child with extensive and progressive cerebral atrophy. The concentration in urine was 947-1,433 mumol/mmol creatinine (controls, n = 10, 5-21 mumol/mmol creatinine) and the daily excretion approximately 3-4 mmol. In cerebrospinal fluid from the patient the concentration was 611 mumol/l (controls, n = 10, not detectable, detection limit 2.3 mumol/l). The concentration of N-acetylaspartic acid in serum was 7 mumol/l. The low level in serum compared to the high urinary excretion of NAA suggests the possibility that NAA is synthesized in the kidneys in addition to the brain. This patient may cast new light on the functional role of N-acetylaspartic acid in humans.
据报道，一名6岁患有广泛性进行性脑萎缩的儿童尿液中N-乙酰天门冬氨酸排泄过多。尿液中浓度为947 - 1433 μmol/mmol肌酐（对照组，n = 10，5 - 21 μmol/mmol肌酐），每日排泄量约为3 - 4 mmol。患者脑脊液中浓度为611 μmol/L（对照组，n = 10，未检测到，检测限为2.3 μmol/L）。血清中N-乙酰天门冬氨酸浓度为7 μmol/L。与NAA高尿排泄相比血清中低水平表明除大脑外NAA可能在肾脏中合成。该患者可能为N-乙酰天门冬氨酸在人类中的功能作用提供新线索。
