Yoshino M, Nishiyori J, Yamashita F, Kumashiro R, Abe H, Tanikawa K, Ohno T, Nakao K, Kaku N, Fukushima H
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Enzyme. 1990;43(3):160-8. doi: 10.1159/000468724.
A discrete deficiency of hepatic ornithine transcarbamylase (OTC) was found in male patients who were 58, 46 and 17 years old. Each had developed hyperammonemic coma. The mother and a sister of the 17-year-old patient exhibited orotic aciduria either spontaneously or after protein loading, thus demonstrating heterozygosity. A sister of one other patient and a daughter of the third patient showed a smaller orotic aciduria after protein loading. These observations indicate that inherited deficiency of OTC should be included in the differential diagnosis of hyperammonemic states in adult male patients.
在一名58岁、一名46岁和一名17岁的男性患者中发现了肝脏鸟氨酸转氨甲酰酶（OTC）的离散性缺乏。他们均发生了高氨血症性昏迷。17岁患者的母亲和一个姐姐自发地或在蛋白质负荷后出现乳清酸尿症，从而证明为杂合子。另一名患者的一个姐姐和第三名患者的一个女儿在蛋白质负荷后出现了较小程度的乳清酸尿症。这些观察结果表明，遗传性OTC缺乏应纳入成年男性患者高氨血症状态的鉴别诊断中。
