Hoogenraad N J, Mitchell J D, Don N A, Sutherland T M, Mc Leay A C
Arch Dis Child. 1980 Apr;55(4):292-5. doi: 10.1136/adc.55.4.292.
The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the patient's mother who became slightly symptomatic after relatively high protein meals and during pregnancy, and had spontaneously modified her diet to one with protein restriction. The patient is growing normally on a dietary regimen similar to that spontaneously adopted by her mother. Urea cycle enzyme activity in the duodenal biopsy material from the controls was similar to that found in the normal human liver and appears to have distinct advantages as a means of assaying for urea cycle defects in patients with hyperammonaemia and their relatives.
对一名患有新生儿高氨血症的女婴的十二指肠活检标本进行了尿素循环酶活性检测。除了依赖N - 乙酰谷氨酸的氨甲酰磷酸合成酶1（CPS1）外，所有酶水平均正常，该酶活性仅为正常对照标本平均活性的一半。在患者母亲的十二指肠标本中也发现了类似的CPS1缺乏，她在摄入相对高蛋白饮食后及孕期出现轻微症状，并自行调整饮食为蛋白质限制饮食。该患者按照与其母亲自行采用的类似饮食方案正常生长。对照组十二指肠活检材料中的尿素循环酶活性与正常人类肝脏中的相似，作为检测高氨血症患者及其亲属尿素循环缺陷的一种方法，似乎具有明显优势。
