Kamoun P P, Parvy P, Cathelineau L, Meyer B
J Inherit Metab Dis. 1981;4(4):217-9. doi: 10.1007/BF02263655.
One patient with abnormal histidinuria and a normal plasma histidine concentration is presented. This patient had myoclonic seizures like another patient previously reported with histidinuria. The effect of a peroral histidine loading test was studied. The relationship between renal histidinuria and neurological abnormalities is discussed.
本文报告了一名尿中组氨酸异常但血浆组氨酸浓度正常的患者。该患者出现了肌阵挛性癫痫发作，与之前报道的另一名组氨酸尿症患者情况类似。研究了口服组氨酸负荷试验的效果。讨论了肾性组氨酸尿症与神经异常之间的关系。
