Anesthetic Management of a Female Patient with Ornithine Transcarbamylase Deficiency
نویسندگان
چکیده
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. We present an adult female patient with OTCD who underwent L5-S1 transforaminal lumbar interbody fusion. Since the NPO status and the stress of surgery predisposed the body to a catabolic state, the anesthetic management of this patient aimed at avoiding conditions that could stimulate protein catabolism.
منابع مشابه
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature
INTRODUCTION Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in adulthood, with episodes that are frequently fatal. CASE PRESENTATION A 13-year-old Caucasian girl...
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