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Results 1 - 6 of 6 for Carbamoyl phosphate
  1. Carbamoyl phosphate synthetase I deficiency 
    Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  2. CPS1 gene 
    ... CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea ... ammonia, which is toxic.The specific role of carbamoyl phosphate synthetase I is to control the first step ...
    https://medlineplus.gov/genetics/gene/cps1 - Genetics
  3. NAGS gene 
    ... acetylglutamate is necessary to turn on the enzyme carbamoyl phosphate synthetase I. This enzyme controls the first step ... at all. This shortage of N-acetylglutamate prevents carbamoyl phosphate synthetase I from being turned on, which prevents ...
    https://medlineplus.gov/genetics/gene/nags - Genetics
  4. OTC gene 
    ... to control the reaction in which two compounds, carbamoyl phosphate and ornithine, form a new compound called citrulline. ...
    https://medlineplus.gov/genetics/gene/otc - Genetics
  5. Infant with Rare, Incurable Disease Is First to Successfully Receive Personalized Gene Therapy Treatment From the National Institutes of Health (National Institutes of Health)  
    Genes and Gene Therapy/Statistics and Research ... Genes and Gene Therapy ... National Institutes of Health ... From the National Institutes of Health ... NIH-supported gene- ...
    https://www.nih.gov/...y-receive-personalized-gene-therapy-treatment - External Health Links
  6. Hereditary urea cycle abnormality 
    ... body. These diseases include: Argininosuccinic aciduria Arginase deficiency Carbamyl phosphate synthetase (CPS) deficiency Citrullinemia N-acetylglutamate synthetase (NAGS) ...
    https://medlineplus.gov/ency/article/000372.htm - Medical Encyclopedia