Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency
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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 کاملIncrease of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTCase, EC 2.1.3.3) a mitochondrial enzyme of the urea cycle catalyses the formation of citrulline from ornithine and carbamoyl phosphate. It has been purified from liver in 3 mammalian species: bovine [ 11, human [2] and rat [3,4] but not from mouse. We decided to purify mouse OTCase because the mouse is the only mammalian species in which two strains with an OTCase...
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 Genetics and Metabolism
سال: 2014
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2014.05.007