title: Antepartum ornithine transcarbamylase deficiency.
abstract: Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Nakajima
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Sasaki
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Maeda
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Takeda
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Hara
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Kazushige
authors.initials: K
authors.lastname: Nakanishi
authors.affiliation: Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Urita
authors.affiliation: Department of Gastroenterology, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Risa
authors.initials: R
authors.lastname: Hattori
authors.affiliation: Department of Neurology, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Miura
authors.affiliation: Department of Gynecology, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Taniguchi
keywords: Ornithine transcarbamylase; Ornithine transcarbamylase deficiency; Pregnancy; Urea cycle deficiency