The Diagnosis and Management of Ornithine Transcarbamylase Deficiency in Pregnancy: A Case Report

Abstract

Objective: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. In our case, we discussed the follow up and the management of the OTC deficiency patient, diagnosed during pregnancy. Case: 32-year-old patient, OTC deficiency was diagnosed during pregnancy which was resulted with missed abortion. In the next pregnancy, the patient treated with phenyl butyrate, arginin ornitin lisin and carbamazepine. Coryon villus sampling (CVS) was done in the first trimester. There was not any mutation in the fetal gene locus. In the 39. gestational week, healthy female baby was delivered by caesarean section. Conclusion: OTC deficiency is a rare disease. To make the followup and the management of these patients during pregnancy, may require knowledge and experience about complications. The treatment must be carried out with multidisciplinary approach. The genetic counseling should be given to the family about the prenatal diagnosis of OTC deficiency (CVS, amniosentesis).