carbamoyl |
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| navigate by keyword : carbamoyl phosphate synthetase deficiency cps1 ammonia anatomy biochemistry biology biotech biotechnology cell diagram disease education enzymatic activity enzyme figure fumarate gene genes genetic disorder genetics genome sciences health human hyperammonemia increased concentrations information inheritable late onset medical medicine metabolic pathway metabolism neonatal screening organ presentation rare science scientific symptoms urea cycle vector |
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| Carbamoyl phosphate synthetase I deficiency (CPS1 deficiency) is a genetic disorder that causes episodes of toxic levels of ammonia in the blood (hyperammonemia). |
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