Modeling Urea cycle disorders through CRISPR-derived OTCD pixHep

Urea cycle disorders (UCDs) are a group of liver metabolic disorders caused by defects in the enzymes responsible for detoxifying nitrogen waste into urea. Deficiency in any of these enzymes leads to ammonia accumulation and is associated with symptoms ranging from developmental delay and cerebral oedema to coma and, ultimately, death. Among UCDs, Ornithine Transcarbamylase Deficiency (OTCD) and Citrullinemia Type 1 (ASS1 deficiency) are the most common. However, due to the lack of suitable in vitro disease models for drug efficacy screening, no licensed treatments are currently available. At pixlbio, we have developed an iPSC-derived UCD model to enable the study and identification of novel treatments.