HYPERAMMONAEMIA - A VARIANT TYPE OF DEFICIENCY OF LIVER ORNITHINE TRANSCARBAMYLASE
HYPERAMMONAEMIA - A VARIANT TYPE OF DEFICIENCY OF LIVER ORNITHINE TRANSCARBAMYLASE
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DOI：
10.1136/adc.44.234.162
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发表时间：
1969-01-01
影响因子：
5.2
通讯作者：
PALMER, T
中科院分区：
文献类型：
--
作者：
LEVIN, B;DOBBS, RH;PALMER, T
由肝鸟氨酸转氨甲酰酶活性缺乏或低引起的特定综合征被称为高氨血症（Russell等人，1962; Levin and Russell，1967; Levin，1968）。在以前的来文中（Levin等人，1969年）2例发生在母亲和儿童。在这篇文章中，我们记录了一个婴儿谁在调查的过程中，他呕吐的原因有一个原因不明的疾病发作，他变得昏昏欲睡，昏昏欲睡，最后昏迷，抽搐。发现他的血浆和CSF氨水平较高，通过肝脏尿素循环酶测定证实了高氨血症的诊断。对该患者肝脏鸟氨酸转氨甲酰酶特性的研究表明，他是这种酶缺乏的一种变异类型。这可能与他的病情相对温和，以及临床恢复的速度和完整性有关。柠檬酸、谷氨酸、丙氨酸和精氨酸对血浆氨水平的影响也进行了研究。病例报告一名男性，出生于1966年8月8日，是无血缘关系的父母的第一个孩子，父母双方都没有发作、精神缺陷或其他代谢性疾病的家族史。母亲在妊娠期间出现毒血症，在36周时通过引产终止妊娠。婴儿正常但稍不成熟，体重2* 4 kg。他起初是母乳喂养，然后是奶瓶喂养，6个月来情况很好，体重沿着第3百分位稳定增长（图1）。6个月时，他因细支气管炎住进Southend综合医院。此时未观察到其他异常，里程碑正常。他体重6-5公斤。他的牛奶和断奶饮食都很好。
The specific syndrome arising from an absent or low hepatic ornithine transcarbamylase activity has been termed hyperammonaemia (Russell et al., 1962; Levin and Russell, 1967; Levin, 1968). In the previous communication (Levin et al., 1969) 2 cases occurring in mother and child are described. In this article, we record an infant who during the course of an investigation for the cause of his vomiting had an unexplained episode of illness in which he became lethargic, drowsy, and finally comatose, with convulsions. He was found to have a high plasma and CSF ammonia, and the diagnosis of hyperammonaemia was confirmed by assay of the urea cycle enzymes of the liver. Studies of the properties of the liver ornithine transcarbamylase in this patient suggest that he represents a variant type of deficiency of this enzyme. This may be correlated with the relative mildness of his condition, and the rapidity and completeness of clinical recovery. The effect of citric acid, glutamic acid, alanine, and arginine on plasma ammonia levels was also studied.Case Report A male, born on August 8, 1966, was the first child of unrelated parents in whom there was no family history of fits, mental defect, or other metabolic diseases on either side. The mother developed toxaemia during pregnancy which was terminated by induction at 36 weeks. The infant was normal butslightly immature, weighing 2* 4 kg. Hewas breast-fed at first, then bottle-fed, and was apparently well for 6 months, growing steadily along the 3rd centile for weight (Fig. 1). At 6 months he was admitted to Southend General Hospital on account of bronchiolitis. No other abnormality was noted at this time, and the milestones were normal. He weighed 6-5 kg. and took his milk and weaning diet well.