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1. A patient with OTC deficiency has recurrent hyperammonemic events over a 3-month period despite reduced...

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Medical Sciences

1. A patient with OTC deficiency has recurrent hyperammonemicevents over a 3-month period despite reduced protein intake andincreased doses of sodium benzoate and sodium phenylacetate. Whatare the factors that need to be considered as a cause of thehyperammonemia in this individual? (Consider the dynamic ofnitrogen balance over this period.) What is the likelytreatment?

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4.4 Ratings (877 Votes)
Ornithine transcarbamylase OTC deficiency can occur as a severe neonatalonset disease in males but rarely in females and as a postneonatalonset partial deficiency disease in males and females Males with severe neonatalonset OTC deficiency are typically normal at birth but become symptomatic from hyperammonemia on day two to three of life and are usually catastrophically ill by the time they come to medical attention After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment they typically require liver transplant by age six months to improve quality of life Males and heterozygous females with postneonatalonset partial OTC deficiency can present from infancy to later childhood adolescence or adulthood No matter how mild the disease a hyperammonemic crisis can be precipitated by stressors and become a lifethreatening event at any age and in any situation in life For all individuals with OTC deficiency typical neuropsychological complications include developmental delay learning disabilities intellectual    See Answer
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