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Licensed Unlicensed Requires Authentication Published by De Gruyter February 27, 2012

Successful prospective management of neonatal citrullinemia

  • Hayato Go EMAIL logo , Takashi Imamura , Koichi Hashimoto , Kei Ogasawara , Osamu Sakamoto , Noriyuki Takubo , Nobuo Momoi and Mitsuaki Hosoya

Abstract

Classical citrullinemia generally involves hyperammonemic coma in the first few days of life and leads to neurological sequelae in survivors. We report a case of an elder sister who fell into a hyperammonemic coma on the fifth day after birth. She was successfully treated with intravenous benzoate and hemodialysis, and was subsequently diagnosed with citrullinemia on the basis of biochemical analysis. Two years later, a younger sister was born without prenatal diagnosis. We monitored plasma ammonia and citrulline levels after birth, and again diagnosed her with CTLN1 on the basis of biochemical and DNA analyses. There have been few reports of the prospective treatment of citrullinemia; however, our experience indicates the need for the prospective management and the rapid reduction of ammonia levels to avoid neonatal hyperammonemic coma and subsequent sequelae.


Corresponding author: Hayato Go, Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima 960–1295, Japan

Received: 2011-10-1
Accepted: 2011-12-25
Published Online: 2012-02-27
Published in Print: 2012-04-01

©2012 by Walter de Gruyter Berlin Boston

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