Perry T L, Applegarth D A, Evans M E, Hansen S, Jellum E
Pediatr Res. 1975 Mar;9(3):117-22. doi: 10.1203/00006450-197503000-00001.
We have described two siblings who excrete massive amounts (up to 3.89 mmol/24 hr) of N-formiminoglutamic acid (FIGLU) in their urine. This unusual compound was isolated from urine, purified, and firmly identified as FIGLU by combined gas chromatography-mass spectrometry. The patients presumably have a deficiency in activity of the hepatic enzyme, glutamate formiminotransferase, which carries out the fourth sequential step in the main pathway of histidine degradation. Unlike children reported previously with this disorder, our patients had normal serum folate levels, had no hematologic abnormalities, and were not mentally retarded. Very small amounts of FIGLU were present in the plasma of one of the patients, but FIGLU was not detectable in the cerebrospinal fluid of either patient. Administration of pharmacologic doses of folic or folinic acid produced a decrease in excretion of FIGLU in urine. Histidine loading caused a small and comparable urinary excretion of FIGLU in the children's parents and in control adult subjects.
我们描述了两名同胞，他们的尿液中排泄大量（高达3.89 mmol/24小时）的N-亚胺甲基谷氨酸（FIGLU）。这种异常化合物从尿液中分离出来，经过纯化，并通过气相色谱-质谱联用技术明确鉴定为FIGLU。患者可能存在肝脏酶谷氨酸亚胺甲基转移酶活性缺乏，该酶在组氨酸降解的主要途径中执行第四步。与先前报道患有这种疾病的儿童不同，我们的患者血清叶酸水平正常，没有血液学异常，也没有智力发育迟缓。其中一名患者的血浆中存在极少量的FIGLU，但两名患者的脑脊液中均未检测到FIGLU。给予药理剂量的叶酸或亚叶酸会使尿液中FIGLU的排泄减少。组氨酸负荷试验导致儿童父母和对照成年受试者尿液中FIGLU的排泄量小且相当。
