Marescau B, De Deyn P P, Lowenthal A, Qureshi I A, Antonozzi I, Bachmann C, Cederbaum S D, Cerone R, Chamoles N, Colombo J P
Laboratory of Neurochemistry, Born-Bunge Foundation, University of Antwerp, Belgium.
Pediatr Res. 1990 Mar;27(3):297-303. doi: 10.1203/00006450-199003000-00020.
The aim of this collaborative study was to investigate whether guanidino compound analyses in the biologic fluids can be used as a complementary diagnostic parameter for hyperargininemia. Guanidino compounds were determined in the biologic fluids of all known living hyperargininemic patients using a cation exchange chromatographic system with a fluorescence detection method. The serum arginine, homoarginine, alpha-keto-delta-guanidino-valeric acid, argininic acid, and N-alpha-acetylarginine levels of all the hyperargininemic patients are higher than the normal range. Similar increases were seen for the urinary excretion of alpha-keto-delta-guanidinovaleric acid and argininic acid. Untreated hyperargininemic patients have the highest guanidino compound levels in cerebrospinal fluid. However, even under therapy, the arginine, homoarginine, alpha-keto-delta-guanidinovaleric acid, and argininic acid levels in cerebrospinal fluid are still increased. Protein restriction alone is not sufficient to normalize the hyperargininemia, but protein restriction together with supplementation of essential amino acids with or without sodium benzoate decreases further the arginine levels. However, whereas the argininemia can be normalized, the catabolites of arginine are still increased. We conclude that the urinary amino acid levels may remain normal in hyperargininemia, whereas consistent increases of the guanidino compounds are observed. Thus, guanidino compound analyses can be used as a complementary biochemical diagnostic parameter for hyperargininemia. Although the argininemia can be normalized by therapy, the levels of the catabolites of arginine are still elevated.
这项合作研究的目的是调查生物体液中的胍基化合物分析是否可作为高精氨酸血症的补充诊断参数。使用带有荧光检测方法的阳离子交换色谱系统，测定了所有已知在世的高精氨酸血症患者生物体液中的胍基化合物。所有高精氨酸血症患者的血清精氨酸、高精氨酸、α-酮-δ-胍基戊酸、精氨酸酸和N-α-乙酰精氨酸水平均高于正常范围。α-酮-δ-胍基戊酸和精氨酸酸的尿排泄量也有类似增加。未经治疗的高精氨酸血症患者脑脊液中的胍基化合物水平最高。然而，即使在治疗期间，脑脊液中的精氨酸、高精氨酸、α-酮-δ-胍基戊酸和精氨酸酸水平仍然升高。仅蛋白质限制不足以使高精氨酸血症正常化，但蛋白质限制与补充必需氨基酸（有无苯甲酸钠）一起可进一步降低精氨酸水平。然而，虽然精氨酸血症可以正常化，但精氨酸的分解代谢产物仍然增加。我们得出结论，高精氨酸血症患者的尿氨基酸水平可能保持正常，而胍基化合物则持续增加。因此，胍基化合物分析可作为高精氨酸血症的补充生化诊断参数。虽然精氨酸血症可通过治疗正常化，但精氨酸分解代谢产物的水平仍然升高。
