鸟氨酸转氨甲酰酶缺乏症患者的有机酸代谢

Organic acid metabolism in a patient with ornithine transcarbamylase deficiency.

作者信息

Kodama H, Nose O, Okada S, Maki I, Tajiri H, Sano T, Yabuuchi H

出版信息

Clin Chim Acta. 1982 Aug 4;123(1-2):83-91. doi: 10.1016/0009-8981(82)90116-4.

Abstract

Serum and urinary organic acids in a 9-year-old girl with ornithine transcarbamylase deficiency were investigated. The urinary excretion of alpha-ketoglutarate (alpha-KG) and citrate were abnormally high. An inverse linear correlation was found between the plasma ammonium and alpha-KG levels when the plasma ammonium level was less than 200 micrograms/dl, but not at higher levels, suggesting that on overloading with ammonium, its route of metabolism and compensating mechanism are not functionally normal. After administration of NH4Cl, plasma and urinary levels of alpha-KG, pyruvate and citrate increased, but the urinary succinate level decreased slightly. After oral administration of citrate the plasma alpha-KG level increased and the ammonium level decreased transiently. Our results suggest that administration of citrate or alpha-KG is not effective for reducing hyperammonemia in ornithine transcarbamylase deficiency.

摘要

对一名患有鸟氨酸转氨甲酰酶缺乏症的9岁女孩的血清和尿液有机酸进行了研究。α-酮戊二酸（α-KG）和柠檬酸的尿排泄异常高。当血浆铵水平低于200微克/分升时，血浆铵与α-KG水平之间呈负线性相关，但在较高水平时则不然，这表明在铵过载时，其代谢途径和补偿机制在功能上不正常。给予NH4Cl后，血浆和尿液中的α-KG、丙酮酸和柠檬酸水平升高，但尿琥珀酸水平略有下降。口服柠檬酸后，血浆α-KG水平升高，铵水平短暂下降。我们的结果表明，给予柠檬酸或α-KG对降低鸟氨酸转氨甲酰酶缺乏症中的高氨血症无效。