Ornithine Transcarbamylase Deficiency with Persistent Abnormality in Cerebral Glutamate Metabolism in Adults
نویسندگان
چکیده
منابع مشابه
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults.
PURPOSE To determine cerebral glutamate turnover rate in partial-ornithine transcarbamylase deficiency (OTCD) patients by using carbon 13 ((13)C) magnetic resonance (MR) spectroscopy. MATERIALS AND METHODS The study was performed with approval of the institutional review board, in compliance with HIPAA regulations, and with written informed consent of the subjects. MR imaging, hydrogen 1 ((1)...
متن کاملNitrogen Metabolism in Ornithine Transcarbamylase Deficiency
We developed a new technique that monitors metabolic competency in female heterozygotes for ornithine transcarbamylase deficiency (OTCD). The method uses mass spectrometry to measure conversion of 15 NH 4 Cl to [ 15 N]urea and [515 N]glutamine following an oral load of 15 NH 4 Cl. We found that heterozygotes converted significantly less NH 3 nitrogen to urea, with this difference being particul...
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We developed a new technique that monitors metabolic competency in female heterozygotes for ornithine transcarbamylase deficiency (OTCD). The method uses mass spectrometry to measure conversion of (15)NH4Cl to [15N]urea and [5-(15)N]glutamine following an oral load of (15)NH4Cl. We found that heterozygotes converted significantly less NH3 nitrogen to urea, with this difference being particularl...
متن کاملOrnithine Transcarbamylase Deficiency
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
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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...
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ژورنال
عنوان ژورنال: Radiology
سال: 2009
ISSN: 0033-8419,1527-1315
DOI: 10.1148/radiol.2523081878