Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency

Pediatr Dev Pathol. 2022 May-Jun;25(3):278-284. doi: 10.1177/10935266211055286. Epub 2021 Dec 27.


Introduction: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. Males are severely affected. Female phenotypes vary from asymptomatic to severe, and symptoms may be triggered by high metabolic states like childbirth. Literature on OTC deficiency in pregnancy and placental pathology is limited.

Methods: Pathology records were searched at a single referral center from 2000-2020 and identified three placental cases from two mothers heterozygous for OTC deficiency. Placental pathology and maternal and neonatal history were reviewed in detail.

Results: The placenta from one symptomatic mother carrying an affected male fetus showed widespread high-grade fetal vascular malperfusion (FVM) lesions of varying age. These lesions were not seen in the two placentas from the asymptomatic mother.

Discussion: In cases of symptomatic maternal OTC deficiency, our findings highlight the need for placental examination. Since thrombotic events in the placenta have the potential to associate with fetal and neonatal endothelial damage, a high index of suspicion for neonatal thrombosis may be warranted.

Keywords: inborn errors of metabolism; metabolic; ornithine transcarbamylase deficiency; perinatal; placental pathology; pregnancy.

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease* / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease* / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease* / pathology
  • Placenta / pathology
  • Pregnancy