An adult case of familiar ornithine transcarbamylase deficiency.
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 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...
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 کامل[Ornithine 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...
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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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1988
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.77.1868