Disease

Carbamoyl Phosphate Synthetase I Deficiency

About the Disease
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to, also known as carbamoyl phosphate synthetase i deficiency disease, is related to argininosuccinic aciduria and argininemia. An important gene associated with Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to is CPS1 (Carbamoyl-Phosphate Synthase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Ornithine and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and fetal liver, and related phenotypes are respiratory insufficiency and aminoaciduria

Common Targets
DAO | CPS1 | Histone deacetylase (nonspecified subtype)

疾病靶点研报
Carbamoyl Phosphate Synthetase I Deficiency

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