Hyperammonemic coma in a post-partum patient with undiagnosed urea cycle defect
نویسندگان
چکیده
منابع مشابه
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.
Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.
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Neonatal-onset propionic acidemia is the most common form of disorder. A 9-days old new born admitted to our hospital with lethargy suggested urea cycle defect at first look due to lack of metabolic acidosis, normal ketone and anion gap in laboratory evaluations. The case mimicking urea cycle defect, which was diagnosed as neonatal-onset propionic acidemia by specific tests, was presented becau...
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SUMMARY Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis. Localized short-TE proton MR spectroscopy, performed in two infants who had citrullinemia and ornithine transcarbamylase deficiency, respectively, showed a prominent increase of glutamine/glutamate and lipid/lactate complex in both cases. N-acetylaspartat...
متن کاملHyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency
Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not improve with lactulose therapy and continuous venovenous hemodialysis. Results. Biochemical testing r...
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ژورنال
عنوان ژورنال: Indian Journal of Critical Care Medicine
سال: 2013
ISSN: 0972-5229,1998-359X
DOI: 10.4103/0972-5229.114816