Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to (CPS1D)

氨甲酰磷酸合成酶I缺乏导致的高氨血症(来自ICD-11)

别称:

Carbamoyl-Phosphate Synthase I Deficiency Disease

Carbamoyl Phosphate Synthetase I Deficiency Disease

Carbamoyl Phosphate Synthetase I Deficiency

Congenital Hyperammonemia, Type I

Cps I Deficiency

Cps1d

Carbamoyl-Phosphate Synthetase 1 Deficiency

Carbamoyl-Phosphate Synthetase I Deficiency

Carbamoylphosphate Synthetase I Deficiency

Carbamoyl-Phosphate Synthetase Deficiency

Carbamoyl Phosphate Synthetase Deficiency

Cps1 Deficiency

Hyperammonemia Due to Carbamoyl Phosphate Synthetase I Deficiency

Carbamyl-Phosphate Synthetase I Deficiency Disease

Carbamoyl Phosphate Synthetase 1 Deficiency

Deficiency, Carbamoylphosphate Synthetase I

Carbamylphosphate Synthetase Deficiency

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

尿素循环障碍相关碳酸酶VA缺乏症，也称为碳酸酶VA缺乏症，与尿素循环障碍、高氨血症和尿素循环障碍有关。与尿素循环障碍相关的重要基因是CPS1（尿素循环酶1），其相关通路/超级通路包括代谢和SLITs和ROBOs表达的调节。在该疾病的背景下，奥尼丁和谷氨酸已被提及。相关组织包括肝脏和大脑，相关表型为癫痫发作和肌张力低下。

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