新生儿高氨血症伴肝脏氨甲酰磷酸合成酶活性完全缺乏。
Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.
作者信息
Mantagos S, Tsagaraki S, Burgess E A, Oberholzer V, Palmer T, Sacks J, Baibas S, Valaes T
出版信息
Arch Dis Child. 1978 Mar;53(3):230-4. doi: 10.1136/adc.53.3.230.
Abstract
Two newborn infants, male (A) and female (B), with lethal hyperammonaemia are described in the same family. In both, symptoms started on the second day of life. Lethargy and hypotonia were the most prominent initial findings and were followed by convulsions and coma. In both, blood ammonia levels rose to 570 mumol/u (795 microgram/100 ml) a few hours before death, which occurred on the third and fourth day of life respectively. Assay of liver urea cycle enzymes in baby B showed a complete absence of mitochondrial carbamyl phosphate synthetase activity.
摘要
同一家庭中有两名患有致死性高氨血症的新生儿，分别为男婴（A）和女婴（B）。两人的症状均在出生第二天开始出现。嗜睡和肌张力减退是最突出的初始表现，随后出现惊厥和昏迷。两人在分别于出生第三天和第四天死亡前数小时，血氨水平均升至570 μmol/u（795 μg/100 ml）。对婴儿B的肝脏尿素循环酶进行检测发现，其线粒体氨甲酰磷酸合成酶活性完全缺失。
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