Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.

ABSTRACT: We report on pregnancy management and outcomes in a 27-year-old female patient with ornithine transcarbamylase (OTC) deficiency, the most common inherited enzyme deficiency in the urea cycle. Our patient was diagnosed during childhood after hyperammonemia associated with surgery and steroid treatment and was well-controlled with nitrogen scavenger treatment, low-protein diet, and L-citrulline supplementation. OTC gene sequencing identified a variant of unknown significance that has more recently been classified as likely pathogenic. Women with OTC deficiency are at increased risk of hyperammonemia during pregnancy and the postpartum period, therefore monthly follow up and laboratory assessments are critical in management decision making. Our patient was maintained on glycerol phenyl

SUBMITTER: Feigenbaum A 

PROVIDER: S-EPMC9817480 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature