Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Feb 28, 2017; 9(6): 343-348
Published online Feb 28, 2017. doi: 10.4254/wjh.v9.i6.343
Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency
Jun Kido, Tatsuya Kawasaki, Hiroshi Mitsubuchi, Hidenobu Kamohara, Takashi Ohba, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Jun Kido, Tatsuya Kawasaki, Hiroshi Mitsubuchi, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura, Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan
Tatsuya Kawasaki, Hidenobu Kamohara, Department of Intensive Care Medicine, Kumamoto University Hospital, Kumamoto 860-8556, Japan
Takashi Ohba, Department of Obstetrics and Gynecology, Faculty of Life Sciences, Kumamoto University, Kumamoto 860-8556, Japan
Author contributions: Kido J and Nakamura K designed the report; Kido J, Kawasaki T, Mitsubuchi H, Kamohara H, Ohba T, Matsumoto S and Endo F collected the patient’s clinical data; Kido J and Nakamura K analyzed the data and wrote the paper.
Supported by A Grant-in-Aid for Guidelines and Lifetime Medical Support Systems for inborn errors of metabolism found by newborn screening; a Grant-in-Aid for the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development, AMED.
Institutional review board statement: This study was approved by the ethical committee of the Faculty of Life Science, Kumamoto University.
Informed consent statement: Written informed consent was obtained from the patient and her husband.
Conflict-of-interest statement: None.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Kimitoshi Nakamura, MD, PhD, Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-8556, Japan. nakamura@kumamoto-u.ac.jp
Telephone: +81-096-3735191 Fax: +81-096-3735335
Received: November 5, 2016
Peer-review started: November 9, 2016
First decision: December 15, 2016
Revised: January 2, 2017
Accepted: January 11, 2017
Article in press: January 14, 2017
Published online: February 28, 2017
Processing time: 113 Days and 13.8 Hours
Abstract

Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and external factors; however, the outcomes of these conditions may differ. We resuscitated a female patient with OTCD from hyperammonemic crisis after she gave birth. Hyperammonemia after parturition in a female patient with OTCD can be fatal, and this type of hyperammonemia persists for an extended period of time. Here, we describe the cause and treatment of hyperammonemia in a female patient with OTCD after parturition. Once hyperammonemia crisis occurs after giving birth, it is difficult to improve the metabolic state. Therefore, it is important to perform an early intervention before hyperammonemia occurs in patients with OTCD or in carriers after parturition.

Keywords: Brain image; Delivery; Glutamine; Amino acid; Ornithine transcarbamylase deficiency; Urea cycle disorders; Uterus; Hyperammonemia

Core tip: Hyperammonemia crisis after parturition in patients with ornithine transcarbamylase deficiency (OTCD) is often fatal and difficult to predict. It is important to perform early intervention before hyperammonemia occurs in patients with OTCD or in carriers after parturition.