Duran M, Ketting D, de Bree P K, van Sprang F J, Wadman S K, Penders T J, Wilms R H
Eur J Pediatr. 1981 Jul;136(3):319-23. doi: 10.1007/BF00443002.
We describe a boy who excreted massive amounts of formiminoglutamic acid and hydantoin-5-propionic acid in his urine. He was mildly mentally retarded and epileptic, whereas his twin-brother was completely normal. Loading with L-histidine enhanced the excretion of both metabolites. Treatment was attempted with high doses of folic acid and methionine, but both were without effect on the excretion levels.
我们描述了一个男孩，他的尿液中排泄出大量的亚胺甲基谷氨酸和乙内酰脲-5-丙酸。他有轻度智力发育迟缓且患有癫痫，而他的双胞胎兄弟则完全正常。给予L-组氨酸负荷后，两种代谢产物的排泄量均增加。尝试用高剂量的叶酸和蛋氨酸进行治疗，但两者对排泄水平均无影响。
