This individual, who is known as KJ, was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency at one day old. CPS1 is a rare metabolic disorder in which patients must be placed on ...

The patient in this historic case was KJ, an infant born with CPS1 deficiency, which has about a 50 percent mortality rate within the first week. Patients that do survive can experience severe ...

For patients with CPS1 deficiency and similar ultrarare disorders, the findings offer hope and yet require validation through treatment of the second patient, the third, ...

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 ...

The baby, now 9 ½ months old, became the first patient of any age to have a custom gene-editing treatment, according to his doctors. He received an infusion made just for him and designed to fix ...

Journal of Human Genetics - Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency Skip to main content Thank you for visiting nature.com.

Baby KJ Muldoon was born with a rare genetic disorder called CPS1 deficiency and spent nearly the entire first year of his life in the hospital. Now, he’s finally home after becoming the first ...

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 ...

CPS1 deficiency affects 1 in 1,300,000 persons 10 and has an estimated mortality of 50% in early infancy. 11 Liver transplantation provides a functional urea cycle and improves outcomes. 12,13 ...

Typically, patients with CPS1 deficiency, like KJ, are treated with a liver transplant. However, for patients to receive a liver transplant, they need to be medically stable and old enough to ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Doctors Achieve Medical Breakthrough Using Gene-Editing Therapy to ...