OTC is a key enzyme in the urea cycle which converts toxic ammonia into urea. Elevated ammonia can lead to metabolic crises with progressive and irreversible neurocognitive damage.

Simplified schematic of urea cycle with enzyme defects. The plasma citrulline and argininosuccinate provide the distinguishing features among the urea cycle defects.

The National Urea Cycle Disorders Foundation, the leading patient advocacy group for people affected by urea cycle disorders (UCDs), today announced the launch of a two-year national project to ...

After a series of tests, doctors confirmed a deficiency in the enzyme carbamoyl phosphate synthetase I (CPS1), a key enzyme in the urea cycle. This metabolic pathway is essential for converting ...

After spending over 300 days at the Children’s Hospital of Philadelphia (CHOP), 9-month-old KJ Muldoon has been released from the hospital after receiving personalized CRISPR gene editing therapy.

In this editorial, the authors describe the foundations of an N-of-1 gene-editing study to treat an infant with a urea-cycle disorder.

The authors believe that the drug may also be effective for children with urea-cycle disorders and other genetic diseases that lead to increased levels of ammonia by causing mitochondrial ...

A Vicious Cycle of Mitochondrial Breakdown Professor Rajiv Jalan, senior author of the study from the UCL Institute for Liver & Digestive Health, said: “Ammonia is a toxin that is usually cleared from ...

Increase in Prevalence of Urea Cycle Disorder (UCD) Expected to Drive Urea Cycle Disorder Treatment Market Size UCD is a rare genetic condition caused by deficiencies in one of six enzymes or two ...

In parallel, Amalive will progress an oral formulation into phase 2b trials for outpatient use in the prevention of HE recurrence. Amalive is also developing an oral liquid formulation to treat and ...

Hyperammonemia is characterized by the accumulation of ammonia within the bloodstream upon liver injury. Left untreated, hyperammonemia contributes to conditions such as hepatic encephalopathy that ...