Emergency Medical Minute

Contributor: Alec Coston, MD Educational Pearls: Disclaimer: this has nothing to do with the ER but is too cool to not talk about. Condition: Carbamoyl phosphate synthetase 1 (CPS1) deficiency Rare inborn error of metabolism Inability to properly break down ammonia Leads to severe hyperammonemia and hepatic encephalopathy Natural history: Without treatment, typically fatal within the first few weeks of life Even with current standard treatments, life expectancy is often limited to ~5–6 years Breakthrough treatment: A team of researchers at the Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania developed the CRISPR-based targeted gene therapy for this patient. First-of-its-kind precision approach tailored to the patient's specific mutation Key components of the therapy: Whole-genome sequencing to identify the exact CPS1 mutation Creation of a custom base-editing enzyme designed to correct that specific mutation Design of