在两个家族的兄弟姐妹中进行精氨酸盐酸盐和鸟氨酸天冬氨酸的静脉负荷试验，这些家族出现了与胱氨酸尿症相关的家族性神经综合征。

Intravenous loading with arginine-hydrochloride and ornithine-aspartate in siblings of two families, presenting a familial neurological syndrome associated with cystinuria.

Strauven T, Mardens Y, Clara R, Terheggen H

Biomedicine. 1976 Jun;24(3):191-9.

Abstract

Arginine-hydrochloride and ornithine-aspartate solutions have been infused intravenously to children of two families. Three children of the WOL. family are affected with hyperargininemia and hyperammonemia, due to a lack of arginase. They present a secondary cystine-lysinuria. The three WIL. siblings are suffering from muscular hypotonia, dwarfism, incomplete renal tubular acidosis and primary cystinuria. 2. The aim was to verify how and to what extent the artificial rise of one serum amino acid could influence the serum concentrations and the urinary losses of the other amino acids. The results found for the serum have been submitted to a statistical analysis of variance. 3. The variations observed for the amino acids of the urea cycle can be interpreted as being the reflections of known metabolic pathways. 4. Additional remarks are made on a paradox in the lysinemia-lysinuria relation after arginine infusion, with a simultaneous rise of this essential amino acid in serum and urine.

摘要

已将精氨酸盐酸盐溶液和鸟氨酸天冬氨酸盐溶液静脉输注给两个家庭的儿童。WOL家族的三个孩子因缺乏精氨酸酶而患有高精氨酸血症和高氨血症。他们还患有继发性胱氨酸赖氨酸尿症。WIL家族的三个兄弟姐妹患有肌张力减退、侏儒症、不完全性肾小管酸中毒和原发性胱氨酸尿症。2. 目的是验证一种血清氨基酸的人为升高如何以及在多大程度上会影响其他氨基酸的血清浓度和尿中损失。血清检测结果已进行方差统计分析。3. 观察到的尿素循环氨基酸变化可解释为已知代谢途径的反映。4. 还对精氨酸输注后赖氨酸血症与赖氨酸尿症关系中的一个矛盾现象进行了补充说明，即这种必需氨基酸在血清和尿液中同时升高。