The aim of this study was to examine the expression of cell cycle related molecules and glutamine synthetase (GS), which is expressed in Müller cells and their processes, in ERM tissues. Methods: The ...

The physician quickly ordered tests, which ultimately returned a grave diagnosis: a metabolic disease called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, caused by a genetic mutation.

Until now, the only effective long-term treatment for the rare metabolic disease known as severe Carbamoyl Phosphate Synthetase 1 deficiency, or CPS1, had been a liver transplant. Instead ...

The metabolic condition, called carbamoyl-phosphate synthetase 1 deficiency, affects the urea cycle and can cause deadly levels of ammonia to build up in the blood, leading to severe and permanent ...

Glutamine is a commonly utilized supplement by athletes, bodybuilders, and fitness enthusiasts. It helps with muscle recuperation, reduces muscle soreness, and enhances overall physical performance.

threatening to damage his brain — a sign of an ultrarare and severe genetic disorder called carbamoyl-phosphate synthetase 1 (CPS 1) deficiency. KJ’s parents, Kyle and Nicole, found themselves ...

Kyle’s son, KJ, was born with a rare genetic disease known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, a metabolic disorder caused by the accumulation of toxic levels of ...

The metabolic condition, called carbamoyl-phosphate synthetase 1 deficiency, affects the urea cycle and can cause deadly levels of ammonia to build up in the blood, leading to severe and permanent ...

Muldoon had inherited two mutations, one from each parent, that meant that he did not produce the normal form of a crucial enzyme called carbamoyl phosphate synthetase 1 (CPS-1). This compromised ...

The boy, KJ Muldoon, was born in August 2024 and immediately had his DNA sequenced, revealing mutations in both copies of the gene for the enzyme carbamoyl phosphate synthetase 1 (CPS1). The mutations ...