Journal
PEDIATRIC EMERGENCY CARE
Volume 27, Issue 6, Pages 527-529Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PEC.0b013e31821d86c1
Keywords
ornithine transcarbamylase deficiency; hepatitis; altered mental status
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Ornithine transcarbamylase deficiency is an inborn error of metabolism that commonly presents as hyperammonemia in neonates. We present a case of a 2-year-old girl who was referred to a pediatric emergency department for evaluation of hepatitis, an uncommon presentation of ornithine transcarbamylase deficiency. Recognition of late presentations of this disease is important for survival and neurological outcome.
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