After ruling out a few possibilities, they stumbled across the unfortunate answer—a rare genetic disorder called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency that affects only one ...

A baby born with a rare genetic disease is "growing and thriving" after getting bespoke gene therapy. It's the first time anyone in the world has been given an experimental gene-editing treatment ...

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 ...

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 ...

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 ...

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 ...

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 ...