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.

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.

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 ...

About Urea Cycle Disorders A urea cycle disorder is caused by a genetic mutation—a change in a person’s genes—that leads to a deficiency of one of the enzymes needed to metabolize protein. These ...

About CMP-CPS-001 CMP-CPS-001 is an antisense oligonucleotide (ASO) therapeutic candidate for the treatment of urea cycle disorders targeting carbamoyl phosphate synthetase 1 (CPS1), the first enzyme ...

In a 2022 Cell Reports Medicine study, DeBosch and his team found that administering an enzyme called pegylated arginine deiminase (ADI-PEG 20) significantly improved symptoms of fatty liver and ...

It was also the most pronounced relationship between urea and the level of the nuclear protein Ki-67 as a marker of proliferative activity and O-6-methylguanine-DNA methyltransferase (MGMT), which ...

Urea cycle disorders As the name implies, these conditions describe a problem with one of the enzymes or transporter molecules in the urea cycle.

Abstract. In fibrolamellar hepatocellular carcinoma (FLC), hyperammonemic encephalopathy is a common occurrence and occasionally causes death. Using mass spectrometry, we quantitatively analyzed the ...