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A case of adult-onset type II citrullinemia induced by hospital diet

A case of adult-onset type II citrullinemia induced by hospital diet,10.1007/s12328-010-0188-3,Clinical Journal of Gastroenterology,Akira Ueda,Kazuhik

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A case of adult-onset type II citrullinemia induced by hospital diet  
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Akira Ueda, Kazuhiko Okada, Terumi Takahara, Keiichi Iwasa, Kazuko Shinagawa, Akio Entani, Syuji Inatsuchi, Takayuki Ando, Haruka Fujinami, Kazuto Tajiri, Yoshiharu Tokimitsu, Kohei Ogawahttp://academic.research.microsoft.com/io.ashx?type=5&id=47632162&selfId1=0&selfId2=0&maxNumber=12&query=
A 47-year-old Japanese man was first admitted to our hospital for 8 days because of an asthma attack. After discharge he changed his diet. On the 12th day after his discharge, he was re-admitted to our hospital because he exhibited transient loss of consciousness with flapping tremor. His plasma ammonia level was extremely high (245 μg/dL; normal, <90 μg/dL), suggesting hepatic encephalopathy. He underwent intravenous administration of branched-chain amino acids (Aminoleban®) and oral administration of lactulose and kanamycin sulfate; however, the hyperammonemia did not improve. Analysis of the amino acids and citrin gene led to the diagnosis of adult-onset type II citrullinemia (CTLN2). Following this diagnosis, the carbohydrate content of his diet was mildly restricted. As a result, his plasma ammonia level markedly improved (ammonia, 40–60 μg/dL) and he became symptom-free without any medication. CTLN2 is a metabolic disorder characterized by increased plasma concentrations of citrulline and ammonia, which occurs by the failure of compensatory mechanisms associated with diet. Here, we report a case of a patient for whom a change in eating habits during his hospitalization disturbed his compensatory mechanism resulting in clinical CTLN2, which was reversed with an appropriate diet.
Journal: Clinical Journal of Gastroenterology , vol. 4, no. 1, pp. 28-33, 2011
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