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Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency. | LitMetric

A young woman presented with general malaise in relation to the metabolic condition ornithine transcarbamylase deficiency. Her ammonia level had risen to 229 µmol/L (normal range 0-59 µmol/L). She was treated using her emergency pack of intravenous medicines and made a complete response. We briefly discuss the need to make an urgent diagnosis, the 'mechanism' for checking serum ammonia levels and therapies.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735272PMC
http://dx.doi.org/10.1136/bcr-2015-213768DOI Listing

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