Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), a rare type of urea cycle disorder (UCD), arises from an inborn error of metabolism. Read more here/.

KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024 Doctors were able to create a custom therapy to treat the rare condition ...

Shortly after being born during the summer of 2024, KJ Muldoon was diagnosed with severe Carbamoyl Phosphate Synthetase 1 deficiency, a rare genetic disorder. While the only effective long-term ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase ...

Carbamoyl Phosphate Synthetase 1 as Prognostic Tool for Liver Failure In the latest study, researchers reviewed records and samples from 103 patients with acetaminophen -induced liver failure and ...

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.

Baby KJ had been diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after his birth in August 2024. In a mere six months, scientists across academia and industry developed and ...

Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality ...

KJ Muldoon, a 10-month-old who was born with severe carbamoyl phosphate synthetase 1 deficiency, received the first infusion of the bespoke therapy in February.

A research team supported by the National Institutes of Health (NIH) has developed and safely delivered a personalized gene editing therapy to treat an infant with a life-threatening, incurable ...

KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024 Doctors were able to create a custom therapy to treat the rare condition ...