Hyperammonemic coma in an adult due to ornithine transcarbam
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The differential diagnosis of coma in adults is notoriously broad, but the presence of hyperammonemia narrows it to Reye's syndrome, high-dose chemotherapy, Proteus infection, glycine toxicity (after transurethral resection of prostate), liver failure, and late-onset urea cycle defects.Although disorders of the urea cycle are predominantly the purview of the neonatologist, presentations of urea cycle enzyme deficiencies in adults have been reported. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not improve with lactulose therapy and continuous venovenous hemodialysis. Results. Biochemical testing revealed previously undiagnosed ornithine transcarbamylase deficiency, and the patient responded to arginine, sodium phenylacetate, and sodium benzoate...

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