患有氨甲酰磷酸合成酶I缺乏症的兄弟姐妹。

Siblings with carbamyl phosphate synthetase I deficiency.

作者信息

Asanuma K, Takeuchi Y, Kanda M, Kikuchi Y, Yano N, Kakinuma H

出版信息

Acta Pathol Jpn. 1984 Jul;34(4):901-10. doi: 10.1111/j.1440-1827.1984.tb07621.x.

DOI:10.1111/j.1440-1827.1984.tb07621.x

Abstract

This paper concerns with two autopsied cases of siblings who died from cerebral disturbances. In these patients hyperammonemia developed in the neonatal phase due to carbamyl phosphate synthetase I (CPS I) deficiency. The patient in Case 1 was admitted 2 days after birth because of oliguria and vomiting. Hyperammonemia developed and she died on the 43rd day. In Case 2 hyperammonemia developed from the 2nd day after birth and she expired on the 42nd day. In both cases the diagnosis of CPS I deficiency was established from autopsy findings of the liver.

摘要

本文涉及两例死于脑功能障碍的同胞尸检病例。这些患者在新生儿期因氨甲酰磷酸合成酶I（CPS I）缺乏而出现高氨血症。病例1中的患者出生后2天因少尿和呕吐入院。出现了高氨血症，她在第43天死亡。病例2中，高氨血症从出生后第2天开始出现，她在第42天死亡。在这两个病例中，均根据肝脏的尸检结果确诊为CPS I缺乏。