Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders.
Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders.
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尿液周期疾病中的尿2-羟基-5-氧化丙烯酯，α-酮谷氨酸酯的lactam形式显着增加。
DOI：
10.1007/s00216-011-4688-x
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发表时间：
2011-06
影响因子：
4.3
通讯作者：
Cooper, Arthur J. L.
中科院分区：
文献类型：
--
作者：
Kuhara, Tomiko;Inoue, Yoshito;Ohse, Morimasa;Krasnikov, Boris F.;Cooper, Arthur J. L.
关键词：
α-酮戊二酸（KGM）是谷氨酰胺的α-酮酸类似物，在生理条件下主要与内酰胺形式（2-羟基-5-氧代脯氨酸）平衡存在。在人尿液中鉴定出KGM，并通过气相色谱/质谱（GC/MS）对其浓度进行定量。由于尿素循环五种酶中任何一种的遗传性代谢缺陷，从原发性高氨血症患者获得的尿液中显示酮酸显著升高。在其他原发性高氨血症患者中也观察到尿KGM增加，包括3例导致赖氨酸尿蛋白不耐受的缺陷患者和2例鸟氨酸转运蛋白I缺陷患者中的1例。这些发现表明氮代谢紊乱，最有可能在原发性高氨血症疾病的谷氨酰胺代谢水平。然而，在丙酸血症或甲基丙二酸血症患者中，尿KGM水平与继发性高氨血症相关性不好，可能部分原因是谷氨酰胺水平降低。总之，GC/MS程序具有分析尿KGM所需的定量下限，而尿KGM在尿素循环障碍和其他原发性高氨血症疾病中显着增加。
α-Ketoglutaramate (KGM) is the α-keto acid analogue of glutamine, which exists mostly in equilibrium with a lactam form (2-hydroxy-5-oxoproline) under physiological conditions. KGM was identified in human urine and its concentration quantified by gas chromatography/mass spectrometry (GC/MS). The keto acid was shown to be markedly elevated in urine obtained from patients with primary hyperammonemia due to an inherited metabolic defect in any one of the five enzymes of the urea cycle. Increased urinary KGM was also noted in other patients with primary hyperammonemia, including three patients with a defect resulting in lysinuric protein intolerance and one of two patients with a defect in the ornithine transporter I. These findings indicate disturbances in nitrogen metabolism, most probably at the level of glutamine metabolism in primary hyperammonemia diseases. Urinary KGM levels, however, were not well correlated with secondary hyperammonemia in patients with propionic acidemia or methylmalonic acidemia, possibly as a result, in part, of decreased glutamine levels. In conclusion, the GC/MS procedure has the required lower limit of quantification for analysis of urinary KGM, which is markedly increased in urea cycle disorders and other primary hyperammonemic diseases.
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影响因子：
4.7
作者：
COOPER, AJL;GROSS, M
通讯作者：
GROSS, M
影响因子：
2.9
作者：
Krasnikov BF;Nostramo R;Pinto JT;Cooper AJ
通讯作者：
Cooper AJ
DOI：
10.1002/ajmg.c.30091
发表时间：
2006-05-15
影响因子：
3.1
作者：
Scaglia, F;Lee, B
通讯作者：
Lee, B
影响因子：
4.1
作者：
NISSIM, I;WEHRLI, S;YUDKOFF, M
通讯作者：
YUDKOFF, M
影响因子：
3.9
作者：
Krasnikov, Boris F.;Chien, Chin-Hsiang;Nostramo, Regina;Pinto, John T.;Nieves, Edward;Callaway, Myrasol;Sun, Jin;Huebner, Kay;Cooper, Arthur J. L.
通讯作者：
Cooper, Arthur J. L.