氨基甲酰磷酸合成酶1缺乏症
基因病名称(英)
Carbamoyl phosphate synthetase 1 deficiency
别名(英)
Carbamoyl phosphate synthetase I deficiency,CPS I deficiency,Hyperammonemia due to carbamoyl phosphate synthetase I deficiency
别名
氨甲酰磷酸合成酶 I 缺乏症、CPS I 缺乏症、氨甲酰磷酸合成酶 I 缺乏症引起的高氨血症
统计
reviewed:1; annotated:0
交叉引用
237300,C0751753,D020165
描述(英)
An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation.
描述
尿素循环的一种常染色体隐性遗传疾病，导致高氨血症。它可以表现为以新生儿严重高氨血症为主的破坏性代谢疾病，或者表现为更隐匿的迟发性疾病，通常表现为分解代谢情况下危及生命的高氨血症危机。临床特征包括蛋白质不耐受、间歇性共济失调、癫痫发作、嗜睡、发育迟缓和智力迟钝。