Batshaw M L, Roan Y, Jung A L, Rosenberg L A, Brusilow S W
N Engl J Med. 1980 Feb 28;302(9):482-5. doi: 10.1056/NEJM198002283020902.
We tested the hypothesis that female carriers of ornithine transcarbamylase (OTC) deficiency have cerebral dysfunction as a consequence of episodic hyperammonemia. Seven such carriers were identified by pedigree analysis and protein-tolerance testing. The Wechsler Adult Intelligence Scale was used for evaluation. All IG scores were above 100, but in the protein-tolerant siblings, the full-scale and performance IQ scores were higher by 5.6 and 9.9 points, respectively (P less than 0.02). The absolute difference between the verbal and performance IQ scores was greater in the OTC carriers by 7.8 points (P less than 0.01). This study suggests that clinically asymptomatic carriers of OTC deficiency may have intellectual deficits, perhaps as a result of episodic hyperammonemia.
鸟氨酸转氨甲酰酶（OTC）缺乏症的女性携带者因间歇性高氨血症而存在脑功能障碍。通过系谱分析和蛋白质耐量测试确定了7名此类携带者。使用韦氏成人智力量表进行评估。所有智商得分均高于100，但在蛋白质耐量正常的兄弟姐妹中，全量表智商和操作智商得分分别高出5.6分和9.9分（P小于0.02）。OTC携带者的言语智商和操作智商得分的绝对差值大7.8分（P小于0.01）。这项研究表明，OTC缺乏症临床上无症状的携带者可能存在智力缺陷，这可能是间歇性高氨血症的结果。
