A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood

Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder inherited in an X-linked manner. This report describes a case of a 27-year-old woman diagnosed with OTCD during childhood who experienced growth disturbances and an unstable clinical condition (nausea, vomiting, and hyperammonemia) despite strict dietary and pharmacological management, leading to a poor quality of life. She met the scoring criteria for liver transplantation (LT), received a living donor liver transplant (LDLT) from her mother, and is doing well post-transplant. LT is the only curative treatment available for OTCD, and recent technological advances have significantly improved outcomes in Japan. However, as female patients with OTCD were usually considered to have a mild phenotype, the induction and timing of LT are very difficult to decide. In addition, most LT in female patients with OTCD is performed in childhood; therefore, there are very few case reports of female OTCD patients with LT in adulthood. This case study provides guidance on the indications for LT in adult female OTCD patients.