Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
Tài liệu tham khảo
Palmieri, 2001, Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria, EMBO J, 20, 5060, 10.1093/emboj/20.18.5060
Saheki, 2005, Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier, Hepatol Res, 33, 181, 10.1016/j.hepres.2005.09.031
Saheki, 2002, Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis, J Hum Genet, 47, 333, 10.1007/s100380200046
Kobayashi, 1999, The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein, Nat Genet, 22, 159, 10.1038/9667
Kobayashi, 2003, Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations, Mol Genet Metab, 80, 356, 10.1016/S1096-7192(03)00140-9
Lu, 2005, Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency, J Hum Genet, 50, 338, 10.1007/s10038-005-0262-8
Ben-Shalom, 2002, Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids, Mol Genet Metab, 77, 202, 10.1016/S1096-7192(02)00167-1
Hutchin, 2006, Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in a European patient, J Inherit Metab Dis, 29, 112
Dimmock, 2007, Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet, Pediatrics, 119, 773, 10.1542/peds.2006-1950
Yazaki, 2005, Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2), Intern Med, 44, 188, 10.2169/internalmedicine.44.188
Takahashi, 2006, A case of adult-onset type II citrullinemia: deterioration of clinical course after infusion of hyperosmotic and high sugar solutions, Med Sci Monit, 12, CS13
Saheki, 2007, Citrin/mitochondrial glycerol 3-phosphate double-knockout mice recapitulate features of human citrin deficiency, J Biol Chem, 282, 25041, 10.1074/jbc.M702031200
Tanaka, 2007, A lean man with nonalcoholic fatty liver disease, Clin Gastroenterol Hepatol, 5, A32, 10.1016/j.cgh.2006.06.014
Yazaki, 2004, Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia, Liver Transpl, 10, 550, 10.1002/lt.20131
Takagi, 2006, Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis, J Hepatol, 44, 236, 10.1016/j.jhep.2005.08.024
Kleiner, 2005, Design and validation of histological scoring system for nonalcoholic fatty liver disease, Hepatology, 41, 1313, 10.1002/hep.20701
The Examination Committee of Criteria for ‘Obesity Diseases’ in Japan, Japan Society for the Study of Obesity. New Criteria for ‘Obesity Disease’ in Japan. Circ J 2002;66:987–992.
Tanaka, 2006, Useful parameters for distinguishing nonalcoholic steatohepatitis with mild steatosis from cryptogenic chronic hepatitis in the Japanese population, Liver Int, 26, 956, 10.1111/j.1478-3231.2006.01338.x
Arai, 2006, Prevalence of metabolic syndrome in the general Japanese population in 2000, J Atheroscler Thromb, 13, 202, 10.5551/jat.13.202
Su, 1982, Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts, J Clin Invest, 70, 1334, 10.1172/JCI110736
Tanaka, 2008, Highly-purified eicosapentaenoic acid treatment improves nonalcoholic steatohepatitis, J Clin Gastroenterol, 42, 413, 10.1097/MCG.0b013e31815591aa
Saadeh, 2002, The utility of radiological imaging in nonalcoholic fatty liver disease, Gastroenterology, 123, 745, 10.1053/gast.2002.35354
Yasuda, 2000, Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia, Hum Genet, 107, 537, 10.1007/s004390000430
Yamaguchi, 2002, Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations, Hum Mutat, 19, 122, 10.1002/humu.10022
Takaya, 2005, Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13, Metabolism, 54, 1615, 10.1016/j.metabol.2005.06.009
Ohura, 2007, Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), J Inherit Metab Dis, 30, 139, 10.1007/s10545-007-0506-1
Soeda J, Yazaki M, Nakata T, Miwa S, Ikeda S, Hosoda W, et al. Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report and review of the literature. J Clin Gastroenterol, in press.
Kobayashi, 1993, A search for primary abnormality in adult-onset type II citrullinemia, Am J Hum Genet, 53, 1024
Inui, 1994, Impaired ketogenesis in patients with adult-type citrullinemia, Gastroenterology, 107, 1154, 10.1016/0016-5085(94)90241-0
Aoyama, 1998, Altered constitutive expression of fatty acid-metabolizing enzymes in mice lacking the peroxisome proliferator-activated receptor α (PPARα), J Biol Chem, 273, 5678, 10.1074/jbc.273.10.5678
Tanaka, 2008, PPARα activation is essential for HCV core protein-induced hepatic steatosis and hepatocellular carcinoma in mice, J Clin Invest, 118, 683
Ikeda, 2004, Chronic pancreatitis associated with adult-onset type II citrullinemia: clinical and pathologic findings, Ann Intern Med, 141, W109, 10.7326/0003-4819-141-7-200410050-00028-w1
Tanaka, 2008, Pancreatic exocrine insufficiency: a rare cause of nonalcoholic steatohepatitis, Am J Gastroenterol, 103, 245, 10.1111/j.1572-0241.2007.01562_7.x
Ikeda, 2001, Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation, J Neurol Neurosurg Psychiatry, 71, 663, 10.1136/jnnp.71.5.663
Imamura, 2003, Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease, Hepatol Res, 26, 68, 10.1016/S1386-6346(02)00331-5
Kobayashi, 1997, Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia, Hepatology, 25, 1160, 10.1002/hep.510250519
Tsuboi, 2001, High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia, Neurology, 57, 933, 10.1212/WNL.57.5.933
Tanaka, 2002, Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles, Tohoku J Exp Med, 198, 89, 10.1620/tjem.198.89
Hagiwara, 2003, Hepatocellular carcinoma in a case of adult-onset type II citrullinemia, Intern Med, 42, 978, 10.2169/internalmedicine.42.978
Tsai, 2006, Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma, J Formos Med Assoc, 105, 852, 10.1016/S0929-6646(09)60274-6
Tokuhara, 2007, Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes, Mol Genet Metab, 90, 30, 10.1016/j.ymgme.2006.09.009
Moriyama, 2006, Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice, J Hepatol, 44, 930, 10.1016/j.jhep.2005.09.018