Rottem M, Statter M, Amit R, Brand N, Bujanover Y, Yatziv S
Isr J Med Sci. 1986 Nov;22(11):833-6.
Twenty-two patients with inherited hyperammonemic syndromes are presented. These patients represent 22 different families. The diagnosis was based mainly on family history, blood ammonium levels, acid base balance, urinary orotic acid, urinary and plasma amino acids and organic acids. The final diagnosis was confirmed by determination of liver enzyme activity. In 12 patients (54%), the first clinical manifestations were noticed after the neonatal period; 7 patients (31%) were diagnosed after infancy, and 8 (23%) after the age of 8 years. Two patients who represent the late-onset group of inherited hyperammonemic syndromes are presented in detail. The three most common diagnoses were ornithine transcarbamoylase deficiency, carbamoyl phosphate synthetase deficiency, and lysinuric protein intolerance, which comprised 59% of the diagnosed patients. Our data, based on one of the largest series reported, reveal a relatively large percentage of late-onset inherited hyperammonemic syndromes as compared with previous reports.
本文报告了22例遗传性高氨血症综合征患者。这些患者来自22个不同的家庭。诊断主要基于家族史、血氨水平、酸碱平衡、尿乳清酸、尿和血浆氨基酸及有机酸。最终诊断通过测定肝酶活性得以证实。12例患者（54%）在新生儿期后出现首次临床表现；7例患者（31%）在婴儿期后被诊断，8例患者（23%）在8岁以后被诊断。详细介绍了代表遗传性高氨血症综合征迟发型组的2例患者。三种最常见的诊断为鸟氨酸转氨甲酰酶缺乏症、氨甲酰磷酸合成酶缺乏症和赖氨酸尿性蛋白不耐受症，占已诊断患者的59%。基于所报道的最大系列之一，我们的数据显示，与既往报告相比，迟发型遗传性高氨血症综合征的比例相对较高。
