Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
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DOI：
10.1006/mgme.1998.2783
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发表时间：
1999
影响因子：
3.8
通讯作者：
M. Tuchman;M. Yudkoff
中科院分区：
文献类型：
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作者：
M. Tuchman;M. Yudkoff
回顾性分析 30 例尿素循环障碍继发高氨血症患者（包括 3 例氨基酸转运缺陷患者）和 5 例丙酸血症（PA）患者的血浆谷氨酰胺（456 次测定）、丙氨酸（434 次测定）和天冬酰胺（431 次测定）以及相应的氨水平（260 次测定）。除 2 名重度 PA 患者和 1 名轻度尿素循环障碍患者外，所有患者在一项或多项检测中谷氨酰胺水平均升高。除4名尿素循环障碍患者外，所有患者的最大谷氨酰胺水平均高于100微摩尔/分升，其中3名患者的最大谷氨酰胺水平高于200微摩尔/分升。唯一的例外是 2 名无症状鸟氨酸转氨甲酰酶 (OTC) 缺乏的女性、1 名轻度 OTC 缺乏的男性和 1 名血浆谷氨酰胺水平从未超过 100 µmol/L 的瓜氨酸血症 (CIT) 患者。与患有其他尿素循环障碍的患者相比，患有 CIT 和精氨基琥珀酸尿症 (ASA) 的患者的谷氨酰胺水平具有统计学意义的较低水平。然而，最大谷氨酰胺水平与疾病的严重程度并不直接相关，并且在疾病范围内与结果的严重程度呈反比。 PA 患者的谷氨酰胺、丙氨酸和天冬酰胺水平显着低于尿素循环障碍患者，并且这种疾病的严重程度与血浆谷氨酰胺水平呈反比。在氨甲酰磷酸合成酶 I 和 OTC 缺乏的患者中，血浆氨水平与谷氨酰胺呈正相关，而在 PA 患者中，血浆氨水平与谷氨酰胺呈负相关。尽管大多数患者的丙氨酸和天冬酰胺水平也升高，但它们的水平通常与谷氨酰胺没有良好的相关性（R2 分别为 0.25 和 0.34）。
Plasma levels of glutamine (456 determinations), alanine (434 determinations), and asparagine (431 determinations) and corresponding ammonia levels (260 determinations) were retrospectively analyzed in 30 patients with hyperammonemia secondary to urea cycle disorders (including 3 patients with amino acid transport defects) and 5 patients with propionic acidemia (PA). All patients had elevated glutamine levels on one or more testing except for 2 patients with severe PA and 1 patient with a mild urea cycle disorder. All but 4 patients with urea cycle disorders showed a maximal glutamine level higher than 100 micromol/dl, and 3 patients had a maximal glutamine level of higher than 200 micromol/dl. The only exceptions were 2 asymptomatic ornithine transcarbamylase (OTC)-deficient females, 1 male with mild OTC deficiency, and 1 patient with citrullinemia (CIT) whose plasma glutamine levels were never above 100 micromol/L. Patients with CIT and argininosuccinic aciduria (ASA) showed statistically significant lower levels of glutamine than patients with other urea cycle disorders. However, the maximal glutamine level did not directly correlate with severity of the disorder and within disorders correlated inversely with severity of outcome. Patients with PA showed statistically significant lower glutamine, alanine, and asparagine levels than patients with urea cycle disorders and the severity of this disorder correlated inversely with plasma glutamine levels. Plasma ammonia levels showed a positive correlation with glutamine in patients with carbamyl phosphate synthetase I and OTC deficiency and a negative correlation in patients with PA. Although, most patients also showed elevated levels of alanine and asparagine, their levels generally did not show a good correlation with glutamine (R2 = 0.25 and 0.34, respectively).