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Antepartum ornithine transcarbamylase deficiency. 2014

Hitoshi Nakajima, and Yosuke Sasaki, and Tadashi Maeda, and Masako Takeda, and Noriko Hara, and Kazushige Nakanishi, and Yoshihisa Urita, and Risa Hattori, and Ken Miura, and Tomoko Taniguchi
Department of General Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.

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.

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