高氨血症
氨甲酰磷酸合成酶
尿素循环
外显子
突变
谷氨酰胺
天冬酰胺
尿素
分子生物学
氨
生物
鼹鼠
生物化学
内科学
化学
内分泌学
氨基酸
酶
基因
精氨酸
医学
作者
Mehrdad Talebi,Mohammad Yahya Vahidi Mehrjardi,Kambiz Kalhor,Mohammadreza Dehghani
标识
DOI:10.18502/ijrm.v17i5.4604
摘要
Background: Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of the urea cycle. Carbamoyl phosphate synthetase 1 deficiency (CPS1D), which usually presents as lethal hyperammonemia, is a rare autosomal recessive hereditary disease. Case: We report a case of a two-day-old female neonate with lethal hyperammonemia. The newborn infant was presented with hyperammonemia (34.7
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