Szabó L, Cholnoky P, Horváth K
Acta Paediatr Acad Sci Hung. 1976;17(2):163-7.
Tryptophan loading was performed in a child with Diamond-Blackfan anaemia as well as in his parents and two control persons. There was a fivefold increase of anthranilic acid and kynurenine excretion beside a marked generalized aminoaciduria in the proband; in the parents and the controls no such phenomenon could be demonstrated. The importance of the finding is discussed and investigation of tryptophan metabolism before the first blood transfusion is recommended. The finding cannot be used as a heterozygote test.
对一名患有戴蒙德-布莱克范贫血症的儿童及其父母和两名对照人员进行了色氨酸负荷试验。先证者除有明显的全身性氨基酸尿外，邻氨基苯甲酸和犬尿氨酸排泄量增加了五倍；在其父母和对照人员中未发现此类现象。讨论了这一发现的重要性，并建议在首次输血前对色氨酸代谢进行研究。该发现不能用作杂合子检测。
