Carbamoylphosphate synthetase I (CPS1) is a mitochondrial matrix enzyme that catalyzes the first step of the urea cycle; synthesis of carbamoylphosphate from bicarbonate, ATP, and ammonia using a ...

Infant KJ Muldoon was born with carbamoyl phosphate synthetase 1 (CPS1) deficiency, a condition so rare that only about 1 in a million babies are diagnosed with it. Outcomes are often severe, ...

KJ Muldoon was diagnosed with a rare genetic disorder when he was born called severe CPS1 deficiency. KJ is one in a million babies that are diagnosed with this illness. Researchers and doctors used ...

Two infusions of a customized CRISPR base-editing therapy showed benefit in a baby with an ultra-rare inborn error of metabolism affecting the urea cycle. Once ...