Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids
نویسندگان
چکیده
منابع مشابه
Hyperammonemic 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...
متن کاملAntepartum Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Alt...
متن کاملHyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency.
Ornithine transcarbamylase deficiency is an X-linked disorder of the urea cycle that can cause hyperammonemic encephalopathy in hemizygous males and heterozygous females. Affected females typically limit protein intake in their diet. This case report describes a 36-year-old woman with ulcerative colitis who went into hyperammonemic coma after administration of total parenteral nutrition. A simi...
متن کاملOrthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy.
Ornithine transcarbamylase (OTC) deficiency is an X chromosome-linked disorder causing hyperammonemic encephalopathy with a very poor prognosis. We describe here two patients with OTC deficiency, one a late on-set female patient (case 1) and the other a neonatal-onset male patient (case 2), who were successfully treated with orthotopic liver transplantation (OLTx). The OTC activity in the excis...
متن کاملBrain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.
The brain MR imaging characteristics of three patients with acute hyperammonemic encephalopathy resulting from late-onset ornithine transcarbomylase deficiency are presented. MR images revealed injury to the cortex, especially the cingulate gyrus and insular cortex, with sparing of the perirolandic and occipital cortices. These findings presumably reflect the distribution of brain injury from h...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2011
ISSN: 0743-8346,1476-5543
DOI: 10.1038/jp.2011.23