Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency
نویسندگان
چکیده
منابع مشابه
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 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...
متن کاملornithine transcarbamylase deficiency in iranian children
ammonia is a toxic material for mammalians. it is detoxificated and converted to urea in the urea cycle in liver. each defect in the urea cycle cause increase in blood ammonia level. ornithine transcarbamylase enzyme (otc) is the second enzyme in the urea cycle that exists in mitochondria. otc deficiency is the most common hereditary disorder in the urea cycle. in this study, 45 hyper ammonia p...
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ژورنال
عنوان ژورنال: Molecular Therapy
سال: 2018
ISSN: 1525-0016
DOI: 10.1016/j.ymthe.2017.12.024