Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report
Ornithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the OTC gene, located on chromosome X.Its prevalence is estimated at 1 in 80,000 to 56,500 births, but this X-chromosomal inheritance results in males being more affected than females.In neonates affected with this disorder, hyp