Ornithine Transcarbamylase Deficiency: Diagnostic and Management Challenges in the ICU
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 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...
متن کاملAnesthetic Management of a Female Patient with Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD) is an X-linked, inherited condition within the urea cycle characterized by failure of ammonia detoxification and urea formation. This may lead to hyperammonemic encephalopathy that, if uncontrolled, results in brain injury and death. Individuals susceptible to this disorder are at risk for hyperammonemic crises if a catabolic state is precipitated. W...
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ژورنال
عنوان ژورنال: Journal of the Intensive Care Society
سال: 2013
ISSN: 1751-1437
DOI: 10.1177/175114371301400315