Endocrine Abstracts

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD) with a prevalence of one in 60-70,000 in humans. It is mainly caused by mutations in the OTC gene, which encodes the enzyme ornithine transcarbamylase. Patients with OTCD present disturbed urea cycle function and ammonia accumulation in the bloodstream, downstream leading to a range of symptoms, including developmental delay, cerebral oedema, coma, and death. We developed a human...