Ornithine Carbamoyltransferase Deficiency
Ornithine carbamoyltransferase deficiency (OTC deficiency) is a rare X-linked urea cycle disorder resulting from a mutation in the OTC gene, which encodes the mitochondrial enzyme ornithine transcarbamylase. This enzyme plays a pivotal role in the urea cycle, responsible for eliminating excess nitrogen by converting ammonia to urea. A deficiency leads to toxic accumulation of ammonia,