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McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M. “Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype”. Am J Med Genet. 93(4). 313-9. Aug.2000.

has been cited by the following article:

Article

Late Onset Ornithine Transcarbamylase Deficiency Accompanying Severe HyperammonemiaAfter Cesarean Section: Case Report

1Marash Life Hospital, Kahramanmaras, Turkey

2Kahramanmaras Sutcu Imam University Medical School Department of Anesthesiology and Reanimation Kahramanmaras, Turkey


American Journal of Medical Case Reports. 2015, Vol. 3 No. 5, 133-136
DOI: 10.12691/ajmcr-3-5-4
Copyright © 2015 Science and Education Publishing

Cite this paper:
Birsen Dogu, Nezir Yılmaz, Sabriye Ozcekic, Hafize Oksuz. Late Onset Ornithine Transcarbamylase Deficiency Accompanying Severe HyperammonemiaAfter Cesarean Section: Case Report. American Journal of Medical Case Reports. 2015; 3(5):133-136. doi: 10.12691/ajmcr-3-5-4.

Correspondence to: Birsen  Dogu, Marash Life Hospital, Kahramanmaras, Turkey. Email: birsendogu@hotmail.com

Abstract

Hyperammonemia is one of the common complications of porto-systemic shunt or liver failure. In patients without liver failure or porto-systemic shunt, hyperammonemia can be caused by urea cycle disorders. Nitrogen excretion pathway or enzyme deficiency disorder can result in any hyperammonemia, coma, or death that may cause severe clinical encephalopathy presenting with neurological symptoms. The most common cause of genetic disorders in the urea cycle is ornithine carbamoyltransferase deficiency. In this article, 28-year-old female patient who had late-onset ornithine carbamoyltransferase deficiency with severe acute hyperammonemia resulting coma and death after cesarian section is described. In addition, treatment of hyperammonemia including sodium benzoate, arginine, and hemodialysis were discussed.

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