Answer -- D.Ornithine transcabamylase deficiency
Disorder of urea cycle defect
S/S-- increased respiratory rate, vomiting, respiratory alkalosis, increase ammonia, and fatal encephalopathy
Increased ammonia level is key to diagnosis
newborn screening is available
Long term therapy-- low protein diet, supplemental oral arginine, citrulline, sodium benzoate or sodium phenyl acetate
Hemodialysis
Liver transplantation
Back to question
Back to Practice Question and Answer--- Foundation of Practice
Disorder of urea cycle defect
S/S-- increased respiratory rate, vomiting, respiratory alkalosis, increase ammonia, and fatal encephalopathy
Increased ammonia level is key to diagnosis
newborn screening is available
Long term therapy-- low protein diet, supplemental oral arginine, citrulline, sodium benzoate or sodium phenyl acetate
Hemodialysis
Liver transplantation
Back to question
Back to Practice Question and Answer--- Foundation of Practice
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