Literature DB >> 21956151

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.

S Lipskind1, S Loanzon, E Simi, D W Ouyang.   

Abstract

Women who are carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia during the postpartum period and at times of metabolic stress. We present a unique case of hyperammonemic coma occurring in an OTC mutation carrier during the antepartum period. Multiple factors, including the administration of antenatal corticosteroids, likely precipitated this critical condition. Clinicians should be aware of this life-threatening clinical presentation and be prepared to identify, treat, and prevent hyperammonemia in affected individuals.

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Year:  2011        PMID: 21956151     DOI: 10.1038/jp.2011.23

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  9 in total

Review 1.  Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Authors:  Ljubica Caldovic; Iman Abdikarim; Sahas Narain; Mendel Tuchman; Hiroki Morizono
Journal:  J Genet Genomics       Date:  2015-05-19       Impact factor: 4.275

2.  Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

Authors:  Farrah Rajabi; Lance H Rodan; Maureen M Jonas; Janet S Soul; Nicole J Ullrich; Ann Wessel; Susan E Waisbren; Wen-Hann Tan; Gerard T Berry
Journal:  JIMD Rep       Date:  2017-09-09

Review 3.  Maternal Genetic Disorders in Pregnancy.

Authors:  Sarah Harris; Neeta L Vora
Journal:  Obstet Gynecol Clin North Am       Date:  2018-06       Impact factor: 2.844

4.  Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.

Authors:  Jordi Gascon-Bayarri; Jaume Campdelacreu; Jordi Estela; Ramon Reñé
Journal:  Case Rep Neurol Med       Date:  2015-04-09

5.  Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

Authors:  Catia Cavicchi; Maria Donati; Rossella Parini; Miriam Rigoldi; Mauro Bernardi; Francesca Orfei; Nicolò Gentiloni Silveri; Aniello Colasante; Silvia Funghini; Serena Catarzi; Elisabetta Pasquini; Giancarlo la Marca; Sean Mooney; Renzo Guerrini; Amelia Morrone
Journal:  Orphanet J Rare Dis       Date:  2014-07-16       Impact factor: 4.123

6.  Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.

Authors:  Christan D Santos; Robert A Ratzlaff; Jennifer C Meder; Paldeep S Atwal; Nicole E Joyce
Journal:  Case Rep Crit Care       Date:  2017-11-27

Review 7.  Impact of pregnancy on inborn errors of metabolism.

Authors:  Gisela Wilcox
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

8.  Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression.

Authors:  Lili Wang; Claude C Warzecha; Alexander Kistner; Jessica A Chichester; Peter Bell; Elizabeth L Buza; Zhenning He; M Betina Pampena; Julien Couthouis; Sunjay Sethi; Kathleen McKeever; Michael R Betts; Emil Kakkis; James M Wilson; Samuel Wadsworth; Barbara A Sullivan
Journal:  Mol Ther Methods Clin Dev       Date:  2022-01-19       Impact factor: 6.698

9.  Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.

Authors:  Koji Imoto; Masatake Tanaka; Takeshi Goya; Tomomi Aoyagi; Motoi Takahashi; Miho Kurokawa; Shigeki Tashiro; Masaki Kato; Motoyuki Kohjima; Yoshihiro Ogawa
Journal:  BMC Gastroenterol       Date:  2022-03-28       Impact factor: 3.067

  9 in total

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