McReynolds J W, Mantagos S, Brusilow S, Rosenberg L E
J Pediatr. 1978 Sep;93(3):421-7. doi: 10.1016/s0022-3476(78)81149-4.
A male infant with complete hereditary deficiency of hepatic ornithine transcarbamylase was fed a low-protein diet (1 gm/kg/day) supplemented with nitrogen-free analogues of essential amino acids from the age of 2 days until his death at 5 months. Blood ammonia and plasma acid concentrations were maintained in the near normal range during most of his lifetime. Growth and development were entirely normal. Abrupt, unprecipitated hyperammonemia, which could not be reversed by intensive treatment, led to his death. To our knowledge, this child lived longer than any previously reported infant with OTC deficiency of this severity.
一名患有完全遗传性肝鸟氨酸转氨甲酰酶缺乏症的男婴，从2日龄起直至5个月死亡时，一直食用低蛋白饮食（1克/千克/天），并补充必需氨基酸的无氮类似物。在其生命的大部分时间里，血氨和血浆酸浓度维持在接近正常的范围内。生长和发育完全正常。突发的、无前兆的高氨血症，经强化治疗无法逆转，导致了他的死亡。据我们所知，这个孩子比之前报道的患有如此严重OTC缺乏症的任何婴儿存活时间都要长。
