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Urea Cycle Disorder - Medical Student Grand Rounds...

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Medical Student Grand Rounds April 25, 2011 EPC/Biochemistry
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Converts nitrogen into urea which is soluble and can be excreted The Urea Cycle
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Ornithine Transcarbalymase Deficiency Genetics X linked 10 % of female carriers become symptomatic Clinical severity depends on X inactivation in the liver UCDs occur in approximately 1 in 8,200 live births
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Presenting Symptoms OTC Deficiency Neurologic decreased level of consciousness altered mental status abnormal motor function seizures Gastrointestinal vomiting poor feeding diarrhea nausea constipation
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Diagnosis Ammonia level Sample must be on ice and delivered rapidly to the lab Enzyme testing
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Management of Hyperammonemia from OTC deficiency Rehydrate and maintain good urine output without overhydration. Remove nitrogen using medications and dialysis. Stop protein intake and minimize catabolism. Stimulate anabolism and uptake of nitrogen precursors by muscle.
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Treatment of Acute Hyperammonemia in OTC deficiency
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