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Volumn 59, Issue 1, 2007, Pages 59-66

Adult-onset citrullinemia

Author keywords

Adult citrullinemia; Congenital hyper ammonemia; Hepatic encephalopathy; Liver transplantation; Urea cycle disorder

Indexed keywords

AMMONIA; ARGININOSUCCINATE SYNTHASE; CITRULLINE; ARGININE; CALCIUM BINDING PROTEIN; CITRIN; GLYCEROL; ORGANIC ANION TRANSPORTER;

EID: 33846547489     PISSN: 00068969     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (2)

References (34)
  • 1
    • 0034771008 scopus 로고    scopus 로고
    • Type II (adult-onset) citrullinemia: Clinical pictures and the therapeutic effect of liver transplantation
    • Ikeda S, Yazaki M, Takei Y, Ikegami T, Hashikura Y, et al: Type II (adult-onset) citrullinemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry 71: 663-670, 2001
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 663-670
    • Ikeda, S.1    Yazaki, M.2    Takei, Y.3    Ikegami, T.4    Hashikura, Y.5
  • 2
    • 0033037729 scopus 로고    scopus 로고
    • The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein
    • Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, et al: The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein. Nat Genet 22: 159-163, 1999
    • (1999) Nat Genet , vol.22 , pp. 159-163
    • Kobayashi, K.1    Sinasac, D.S.2    Iijima, M.3    Boright, A.P.4    Begum, L.5
  • 3
    • 33846532530 scopus 로고    scopus 로고
    • Japanese source
    • Japanese source
  • 4
    • 33846496989 scopus 로고    scopus 로고
    • Japanese source
    • Japanese source
  • 5
    • 0017036179 scopus 로고
    • Siblings cases of chronic recurrent hepatocerebral disease with hypercitrullinemia
    • Tsujii T, Morita T, Matsuyama Y, Matsui T, Tamura M, et al: Siblings cases of chronic recurrent hepatocerebral disease with hypercitrullinemia. Gastroenterol Jpn 11: 328-340, 1976
    • (1976) Gastroenterol Jpn , vol.11 , pp. 328-340
    • Tsujii, T.1    Morita, T.2    Matsuyama, Y.3    Matsui, T.4    Tamura, M.5
  • 6
    • 0023076114 scopus 로고
    • Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
    • Saheki T, Kobayashi K, Inoue I: Hereditary disorders of the urea cycle in man: biochemical and molecular approaches. Rev Physiol Biochem Pharmacol 108: 21-68, 1987
    • (1987) Rev Physiol Biochem Pharmacol , vol.108 , pp. 21-68
    • Saheki, T.1    Kobayashi, K.2    Inoue, I.3
  • 7
    • 0023511557 scopus 로고
    • Molecular basis of enzyme abnormalities in urea cycle disorders: With special reference to citrullinemia and argininosuccinaic aciduria
    • Saheki T, Kobayashi K, Ichiki H, Matuo S, Tatsuno M, et al: Molecular basis of enzyme abnormalities in urea cycle disorders: with special reference to citrullinemia and argininosuccinaic aciduria. Enzyme 38: 227-232, 1987
    • (1987) Enzyme , vol.38 , pp. 227-232
    • Saheki, T.1    Kobayashi, K.2    Ichiki, H.3    Matuo, S.4    Tatsuno, M.5
  • 8
    • 0030904811 scopus 로고    scopus 로고
    • Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
    • Kobayashi K, Horiuchi M, Saheki T: Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia. Hepatology 25: 1160-1165, 1997
    • (1997) Hepatology , vol.25 , pp. 1160-1165
    • Kobayashi, K.1    Horiuchi, M.2    Saheki, T.3
  • 9
    • 33846483942 scopus 로고    scopus 로고
    • Japanese source
    • Japanese source
  • 10
    • 33846536454 scopus 로고    scopus 로고
    • Japanese source
    • Japanese source
  • 12
    • 0028019772 scopus 로고
    • Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia
    • Kobayashi K, Shaheen N, Terazono H, Saheki T: Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. Am J Hum Genet 55: 1103-1112, 1994
    • (1994) Am J Hum Genet , vol.55 , pp. 1103-1112
    • Kobayashi, K.1    Shaheen, N.2    Terazono, H.3    Saheki, T.4
  • 13
    • 0036165970 scopus 로고    scopus 로고
    • Screeing of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese populations: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
    • Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, et al: Screeing of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese populations: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum Mutat 19: 122-130, 2002
    • (2002) Hum Mutat , vol.19 , pp. 122-130
    • Yamaguchi, N.1    Kobayashi, K.2    Yasuda, T.3    Nishi, I.4    Iijima, M.5
  • 15
    • 12144289341 scopus 로고    scopus 로고
    • Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: Involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
    • Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, et al: Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 81: S20-S26, 2004
    • (2004) Mol Genet Metab , vol.81
    • Saheki, T.1    Kobayashi, K.2    Iijima, M.3    Horiuchi, M.4    Begum, L.5
  • 16
    • 0035005987 scopus 로고    scopus 로고
    • Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
    • Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, et al: Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr 138: 741-743, 2001
    • (2001) J Pediatr , vol.138 , pp. 741-743
    • Tomomasa, T.1    Kobayashi, K.2    Kaneko, H.3    Shimura, H.4    Fukusato, T.5
  • 17
    • 0035099306 scopus 로고    scopus 로고
    • Neonatal presentation of adult-onset type II citrullinemia
    • Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, et al: Neonatal presentation of adult-onset type II citrullinemia. Hum Genet 108: 87-90, 2001
    • (2001) Hum Genet , vol.108 , pp. 87-90
    • Ohura, T.1    Kobayashi, K.2    Tazawa, Y.3    Nishi, I.4    Abukawa, D.5
  • 18
    • 5444224966 scopus 로고    scopus 로고
    • Chronic pancreatitis associated with adult-onset type II citrullinemia: Clinical and pathologic findings
    • Ikeda S, Kawa S, Takei Y, Yamamoto K, Shimojo H, et al: Chronic pancreatitis associated with adult-onset type II citrullinemia: clinical and pathologic findings. Ann Intern Med 141: W-109-110, 2004
    • (2004) Ann Intern Med , vol.141
    • Ikeda, S.1    Kawa, S.2    Takei, Y.3    Yamamoto, K.4    Shimojo, H.5
  • 19
    • 0242606867 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in a case of adult-onset type II citrullinemia
    • Hagiwara N, Sekijima Y, Takei Y, Ikeda S, Kawasaki S, et al: Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. Intern Med 42: 978-982, 2003
    • (2003) Intern Med , vol.42 , pp. 978-982
    • Hagiwara, N.1    Sekijima, Y.2    Takei, Y.3    Ikeda, S.4    Kawasaki, S.5
  • 20
    • 0038217975 scopus 로고    scopus 로고
    • 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
    • Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, et al: 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: 68-72, 2003
    • (2003) Hepatol Res , vol.26 , pp. 68-72
    • Imamura, Y.1    Kobayashi, K.2    Shibatou, T.3    Aburada, S.4    Tahara, K.5
  • 21
    • 33846524516 scopus 로고    scopus 로고
    • Primary liver carcinoma exhibiting hepatocellular-biliary epithelial differentiation in an asymptomatic patient with adult-onset type II citrullinemia
    • in press
    • Kojiro M, Soeda J, Yazaki M, et al: Primary liver carcinoma exhibiting hepatocellular-biliary epithelial differentiation in an asymptomatic patient with adult-onset type II citrullinemia. J Clin Gastroenterol (in press)
    • J Clin Gastroenterol
    • Kojiro, M.1    Soeda, J.2    Yazaki, M.3
  • 22
    • 0034531004 scopus 로고    scopus 로고
    • Hepatocellular carcinoma associated with adult-type citrullinemia
    • Ito T, Shiraki K, Sekoguchi K, Yamanaka T, Sugimoto K, et al: Hepatocellular carcinoma associated with adult-type citrullinemia. Digest Dis Sci 45: 2203-2206, 2000
    • (2000) Digest Dis Sci , vol.45 , pp. 2203-2206
    • Ito, T.1    Shiraki, K.2    Sekoguchi, K.3    Yamanaka, T.4    Sugimoto, K.5
  • 23
    • 0025372670 scopus 로고
    • Promoting effect of citrulline in hepatocarcinogenesis: Possible mechanism in hypercitrullinemia
    • Nakayama M, Okamoto Y, Morita T, Matsumoto M, Fukui H, et al: Promoting effect of citrulline in hepatocarcinogenesis: possible mechanism in hypercitrullinemia. Hepatology 11: 819-823, 1990
    • (1990) Hepatology , vol.11 , pp. 819-823
    • Nakayama, M.1    Okamoto, Y.2    Morita, T.3    Matsumoto, M.4    Fukui, H.5
  • 24
    • 28844465140 scopus 로고    scopus 로고
    • Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis
    • Takagi H, Hagiwara S, Hashizume H, Kanda D, Sato K, et al: Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis. J Hapatol 44: 236-239, 2006
    • (2006) J Hapatol , vol.44 , pp. 236-239
    • Takagi, H.1    Hagiwara, S.2    Hashizume, H.3    Kanda, D.4    Sato, K.5
  • 25
    • 33846525699 scopus 로고    scopus 로고
    • A Lean Man With Nonalcoholic Fatty Liver Disease
    • Aug 7; [Epub ahead of print
    • Tanaka N, Yazaki M, Kobayashi K: A Lean Man With Nonalcoholic Fatty Liver Disease. Clin Gastroenterol Hepatol. 2006 Aug 7; [Epub ahead of print]
    • (2006) Clin Gastroenterol Hepatol
    • Tanaka, N.1    Yazaki, M.2    Kobayashi, K.3
  • 26
    • 17744397286 scopus 로고    scopus 로고
    • Identification of two novel mutations in the SCL25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
    • Yasuda T, Yamaguchi N, Kobayashi K, Nishi I, Horinouchi H, et al: Identification of two novel mutations in the SCL25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. Hum Genet 107: 537-545, 2000
    • (2000) Hum Genet , vol.107 , pp. 537-545
    • Yasuda, T.1    Yamaguchi, N.2    Kobayashi, K.3    Nishi, I.4    Horinouchi, H.5
  • 27
    • 23944517760 scopus 로고    scopus 로고
    • Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
    • Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, et al: Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet 50: 338-346, 2005
    • (2005) J Hum Genet , vol.50 , pp. 338-346
    • Lu, Y.B.1    Kobayashi, K.2    Ushikai, M.3    Tabata, A.4    Iijima, M.5
  • 28
    • 0034218582 scopus 로고    scopus 로고
    • Type II citrullinemia in an elderly patient treated with living related partial liver transplantation
    • Takenaka K, Yasuda I, Araki H, Naito T, Fukutomi Y, et al: Type II citrullinemia in an elderly patient treated with living related partial liver transplantation. Intern Med 39: 553-558, 2000
    • (2000) Intern Med , vol.39 , pp. 553-558
    • Takenaka, K.1    Yasuda, I.2    Araki, H.3    Naito, T.4    Fukutomi, Y.5
  • 29
    • 32044472113 scopus 로고    scopus 로고
    • A case of adult-onset type II citrullinemia-deterioration of clinical course after infusion of hyperosmotic and high sugar solutions
    • Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, et al: A case of adult-onset type II citrullinemia-deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. Med Sci Monit 12: CS13-15, 2006
    • (2006) Med Sci Monit , vol.12
    • Takahashi, H.1    Kagawa, T.2    Kobayashi, K.3    Hirabayashi, H.4    Yui, M.5
  • 30
    • 17744379398 scopus 로고    scopus 로고
    • Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2)
    • Yazaki M, Takei Y, Kobayashi K, Saheki T, Ikeda S: Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Intern Med 44: 188-195, 2005
    • (2005) Intern Med , vol.44 , pp. 188-195
    • Yazaki, M.1    Takei, Y.2    Kobayashi, K.3    Saheki, T.4    Ikeda, S.5
  • 31
    • 33846556407 scopus 로고    scopus 로고
    • Japanese source
    • Japanese source
  • 32
    • 8044252824 scopus 로고    scopus 로고
    • Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation
    • Yazaki M, Ikeda S, Takei Y, Yanagisawa N, Matsunami H, et al: Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. Transplantation 62: 1679-1681, 1996
    • (1996) Transplantation , vol.62 , pp. 1679-1681
    • Yazaki, M.1    Ikeda, S.2    Takei, Y.3    Yanagisawa, N.4    Matsunami, H.5
  • 33
    • 11144354271 scopus 로고    scopus 로고
    • Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia
    • Yazaki M, Hashikura Y, Takei Y, Ikegami T, Miyagawa S, et al: Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia. Liver Transplant 10: 550-554, 2004
    • (2004) Liver Transplant , vol.10 , pp. 550-554
    • Yazaki, M.1    Hashikura, Y.2    Takei, Y.3    Ikegami, T.4    Miyagawa, S.5
  • 34
    • 33645810180 scopus 로고    scopus 로고
    • Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice
    • Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, et al: Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. J Hapatol 44: 930-938, 2006
    • (2006) J Hapatol , vol.44 , pp. 930-938
    • Moriyama, M.1    Li, M.X.2    Kobayashi, K.3    Sinasac, D.S.4    Kannan, Y.5


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