If either mutation could be corrected, the child would have one functional copy and theoretically be able to produce enough CPS1 to have a functional urea cycle without external assistance.

Quiver AI Summary CAMP4 Therapeutics announced promising results from its SYNGAP1 and Urea Cycle Disorders (UCDs) programs at the 28th Annual Meeting of the American Society of Gene and Cell Therapy.

Rat Studies Sprague—Dawley rats, weighing between 300 and 650 gm, were injected intraperitoneally with 5 ml of 0.5 M solutions of urea, arginine and creatinine, and 5 ml of 5.0 M urea.

Conducted during his time at Washington University in St. Louis, the study found that these urea cycle defects lead to secondary impairment in the tricarboxylic acid (TCA) cycle, a key pathway for ...

In a study recently published in Cell Metabolism, Brian DeBosch, MD, PhD, professor of pediatrics at the IU School of Medicine and the study’s corresponding author, uncovered a critical link between ...

In a study recently published in Cell Metabolism, Brian DeBosch, MD, PhD, professor of pediatrics at the IU School of Medicine and the study's corresponding author, uncovered a critical link between ...

Conducted during his time at Washington University in St. Louis, the study found that these urea cycle defects lead to secondary impairment in the tricarboxylic acid (TCA) cycle, a key pathway for ...

Hierarchical tricarboxylic acid cycle regulation by hepatocyte arginase 2 links the urea cycle to oxidative metabolism. Cell Metabolism, 2024; DOI: 10.1016/j.cmet.2024.07.007 ...

Conducted during his time at Washington University in St. Louis, the study found that these urea cycle defects lead to secondary impairment in the tricarboxylic acid (TCA) cycle, a key pathway for ...

Hyperammonemia is caused mostly by defects or overproduction in detoxification due to liver disorders. Rare causes of hyperammonemia include fatty acid oxidation disorder, urea cycle disorder, Reye ...