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Article

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

25 Nov 2009

Abstract excerpt

BACKGROUND & AIMS: Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine transcarbamylase (OTC) deficiency. The hyperammonemic encephalopathy was unmasked by a high-protein Atkins diet. METHODS: Genetic analysis of the...

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PMID: 20031247
DOI: 10.1016/j.jhep.2009.11.014

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