Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy
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چکیده
منابع مشابه
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy
INTRODUCTION Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, pre...
متن کاملUnder recognition of late onset ornithine transcarbamylase deficiency.
Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.
متن کاملFatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency.
In this case report we describe a 67-year-old male, admitted to the ICU with pneumonia who unexpectedly developed a fatal coma due to hyperammonaemia. At postmortem the diagnosis late-onset ornithine transcarbamylase deficiency was made. The non-specific clinical presentation, the rapid deterioration and incidentally the fatal outcome all underline the importance of recognition and knowledge of...
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...
متن کاملAdult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders.
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. This condition usually presents in neonates or children. This report describes the clinical case of a 21 year old woman who was diagnosed in adulthood during the course of an unexplained coma. After recovery from the coma, she presented very unusual neuropsychological disorders involving memory and the meaning ...
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ژورنال
عنوان ژورنال: SAGE Open Medical Case Reports
سال: 2014
ISSN: 2050-313X,2050-313X
DOI: 10.1177/2050313x14546348