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  • Title: A case of adult onset type II citrullinemia with portal-systemic shunt.
    Author: Noto D, Takahashi K, Hamaguchi T, Inamura K, Nobata K, Yazaki M, Ikeda S, Kobayashi K, Yamada M.
    Journal: J Neurol Sci; 2009 Jun 15; 281(1-2):127-9. PubMed ID: 19285691.
    Abstract:
    A 48-year-old woman who had conscious disturbance and abnormal behaviors had been misdiagnosed as having hepatic encephalopathy due to hyperammonemia and portal-systemic shunt, and retrograde transvenous obliteration of the shunt did not improve her symptoms. Thereafter, analyses of plasma amino acids and citrin gene revealed a diagnosis of adult onset type II citrullinemia (CTLN2). She underwent auxiliary partial orthotopic liver transplantation (APOLT) using a left lobe graft from her brother, and her symptoms as well as hyperammonemia improved. Our case demonstrates the importance of CTLN2 as a differential diagnosis in patients with hyperammonemia and consciousness disturbance, even if they present with a portal-systemic shunt.
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