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Fatal late‐onset ornithine transcarbamylase deficiency after coronary artery bypass surgery
Author(s) -
Chiong Mary Anne,
Bennetts Bruce H,
Strasser Simone I,
Wilcken Bridget
Publication year - 2007
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.2007.tb00976.x
Subject(s) - medicine , medical genetics , general surgery , genetics , biology , gene
The Medical Journal of Australia ISSN: 0025-729X 16 April 2007 186 8 418-419©The Medical Journal of Australia 2007www.mja.com.auLessons from Practicee report a 44-year-old man who presented with fatalhyperammonaemia after coronary artery bypass sur-gery. He had previously been asymptomatic, apart froma possible episode of unrecognised hyperammonaemia in child-hood. The diagnosis of ornithine transcarbamylase (OTC) defi-ciency was made too late for successful intervention. Inborn errorsof metabolism are frequently unrecognised or diagnosed late inadults.OTC deficiency is the most common disorder affecting the ureacycle. In New South Wales, the incidence is of the order of one in70000 births.