Aminograms during Continuous Haemodiafiltration in the Treatment of Hyperammonemia due to Ornithine Transcarbamylase Deficiency

接受連續血液透析治療鳥胺酸轉碳醯澱粉酶缺乏引發之高血氨症患者的氨基酸分析

陳正穎(Chen-Yin Chen) ； 洪錦傳(Gin-Chuan Huang) ； 蔡宗昌(Tsung-Chang Tsai) ； 李維仁(Wei-Jen Lee)

《東港安泰醫護雜誌》 11卷3期 (2005/09) Pp. 131-138

https://doi.org/10.7078/TSMHMNJ.200509.0131

摘要

目的：鳥胺酸轉碳醯澱粉酶缺乏引發之高血氨症可用連續血液透析治療。本篇文章分析氨基酸之變化在連續血液透析治療鳥胺酸轉碳醯澱粉酶缺乏引發之高血氨症。
材料與方法：分析十二位鳥胺酸轉碳醯澱粉酶缺乏引發高血氨症之病人，這些病人皆使用連續血液透析治療。連續血液透析治療過程中，超過濾液和血漿皆用液體色層分析法分析其中氨基酸之成分。
結果：在接受連續血液透析治療之病人血漿中，白氨酸、類白氨酸、甲硫氨胺酸苯氨基丙酸，及酪胺酸量較對照組低。麩氨酸是病患血漿中唯一較高的氨基酸，這和鳥胺酸轉碳醯澱粉酶缺乏導致尿素氮循環缺損有關。在接受連續血液透析治療之病人，其血漿酪胺酸及氨酸濃度降低，而超過濾液中氨基酸和血漿中其他氨基酸則沒有太大差別。
結論：連續血液透析治療會引起氨基酸代謝的改變，因此在治療尿素氮循環缺損之病人時對其氨基酸變化做監測是必要的。

關鍵字

高血氨症 ； 鳥胺酸轉碳醯澱粉酶 ； 連續血液透析

並列摘要

Background: Hyperammonemia caused by ornithine transcarbamylase (OTC) deficiency can be properly managed by continuous arteriovenous hemodiafiltration (CAVHDF).) Removal of amino acids (AA) during CAVHDF has not been thoroughly investigated. AA losses in patients with urea cycle defects due to ornithine transcarbamylase deficiency treated by CAVHDF were analyzed.
Methods: Twelve neonates with elevated serum ammonia levels, proven through urine organic acid analysis and serum amino acid studies, were documented to have OTC deficiency. CAVHDF was administered in an attempt to lower serum ammonia concentration. Amino acid analysis of ultrafiltration and serum were performed by liquid chromography.
Results: Serum levels of leucine, isoleucine, methionine, phenylalanine and tyrosine were significantly lower in the patients than acceptable levels. Glutamine was the only amino acid that increased significantly, which is clinically relevant to OTC enzyme deficiency. Although the mean serum concentrations of tyrosine and glutamine concentrations were lower in dialysate, the serum and dialysate concentrations of other amino acids did not differ.
Conclusion: CAVHDF may induce changes in amino acid metabolism and distribution as well. The requirement of aminogram monitor for amino acid supplementation in urea cycle defect patients is important.

並列關鍵字

Hyperammonemia ； Ornithine transcarbamylase deficiency ； Continuous hemodiafiltration