当一名21岁的妇女分娩一健康婴儿8天后,立诉头痛、精神错乱,医生误诊为产后抑郁症,将其收入精神科。3天后该妇女进入昏迷状态,一周后死亡。在证明该妇女的血液具有一说明问题的高氨水平——即提示一种罕见的称为鸟氨酸氨甲酰转移酶缺陷病的遗传性疾病诊断线索前,这一病例一直使内科医生惶惑不解。鸟氨酸氨甲酰转移酶为身体分解饮食中蛋白质的含氮化合物所必需的酶。为此酶编码的位于第十染色体上的基因如出现缺陷即造成本 When a 21-year-old woman gave birth to a healthy baby for 8 days, she complained of headache, confusion and misdiagnosis as a postpartum depression by a doctor and recuperated into psychiatry. Three days later the woman came into a coma and died a week later. This case has intrigued physicians before proving that the woman’s blood has a high ammonia level that accounts for the problem - a clue to a rare genetic disease known as ornithine carbamoyltransferase deficiency disease Puzzled. Ornithine carbamoyltransferase is an enzyme necessary for the body to decompose the nitrogen compounds of proteins in the diet. The gene encoded by this enzyme on chromosome 10 is defective in the event of a defect