A young male patient presented with altered sensorium and rapid clinical deterioration following a short period of nonspecific illness and was subsequently diagnosed with ornithine transcarbamylase deficiency (OTCD). We discuss the pathophysiology of OTCD, the difficulties surrounding diagnosis and treatment, and highlight some of the controversies and general management issues of the disease.
National Urea Cycle Disorders Foundationwww.nucdf.org Accessed March 2013.
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