Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency
نویسندگان
چکیده
منابع مشابه
Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and external factors; however, the outcomes of these conditions may differ. We resuscitated a female pati...
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...
متن کاملHemodialysis for hyperammonemia associated with ornithine transcarbamylase deficiency
Acute hyperammonemia is a medical emergency requiring rapid recognition and treatment to prevent devastating neurologic sequelae. Its varying etiologies include primary hepatic failure, drug toxicity, infection, and inherited disorders of metabolism. Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder and can result in hyperammonemic encephalopathy and c...
متن کاملHyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency
Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-ol...
متن کاملAcute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as >1700 µg/dL (rang...
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ژورنال
عنوان ژورنال: World Journal of Hepatology
سال: 2017
ISSN: 1948-5182
DOI: 10.4254/wjh.v9.i6.343