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Volumn 41, Issue 9, 2009, Pages 683-689

Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China

Author keywords

Citrin; Mass spectrometry; Ponderal index; SLC25A13

Indexed keywords

ADENINE; ALBUMIN; ALPHA FETOPROTEIN; ARGININE; ASPARTIC ACID; CITRIN PROTEIN; GENE PRODUCT; GUANINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LYSINE; METHIONINE; ORNITHINE; PROTEIN SLC25A13; THREONINE; TRIACYLGLYCEROL; TYROSINE; UNCLASSIFIED DRUG;

EID: 65749087118     PISSN: 15908658     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dld.2008.11.014     Document Type: Article
Times cited : (48)

References (43)
  • 1
    • 0036299910 scopus 로고    scopus 로고
    • Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
    • Saheki T., and Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 47 (2002) 333-341
    • (2002) J Hum Genet , vol.47 , pp. 333-341
    • Saheki, T.1    Kobayashi, K.2
  • 2
    • 68049135642 scopus 로고    scopus 로고
    • Kobayashi K, Saheki T. Citrin deficiency. GeneReviews at GeneTests [www.genetests.org] Medical genetics information resource, developed at the University of Washington, Seattle. [2005. 9. 16/2008. 7. 2].
    • Kobayashi K, Saheki T. Citrin deficiency. GeneReviews at GeneTests [www.genetests.org] Medical genetics information resource, developed at the University of Washington, Seattle. [2005. 9. 16/2008. 7. 2].
  • 3
    • 0033037729 scopus 로고    scopus 로고
    • The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
    • Kobayashi K., Sinasac D.S., Iijima M., Boright A.P., Begum L., Lee J.R., et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 22 (1999) 159-163
    • (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    Lee, J.R.6
  • 4
    • 0035023473 scopus 로고    scopus 로고
    • Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
    • Tazawa Y., Kobayashi K., Ohura T., Abukawa D., Nishinomiya F., Hosoda Y., et al. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J Pediatr 138 (2001) 735-740
    • (2001) J Pediatr , vol.138 , pp. 735-740
    • Tazawa, Y.1    Kobayashi, K.2    Ohura, T.3    Abukawa, D.4    Nishinomiya, F.5    Hosoda, Y.6
  • 6
    • 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., Tabata M., et al. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr 138 (2001) 741-743
    • (2001) J Pediatr , vol.138 , pp. 741-743
    • Tomomasa, T.1    Kobayashi, K.2    Kaneko, H.3    Shimura, H.4    Fukusato, T.5    Tabata, M.6
  • 7
    • 33947664940 scopus 로고    scopus 로고
    • Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
    • Ohura T., Kobayashi K., Tazawa Y., Abukawa D., Sakamoto O., Tsuchiya S., et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis 30 (2007) 139-144
    • (2007) J Inherit Metab Dis , vol.30 , pp. 139-144
    • Ohura, T.1    Kobayashi, K.2    Tazawa, Y.3    Abukawa, D.4    Sakamoto, O.5    Tsuchiya, S.6
  • 8
    • 44449175969 scopus 로고    scopus 로고
    • Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
    • Tabata A., Sheng J.S., Ushikai M., Song Y.Z., Gao H.Z., Lu Y.B., et al. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J Hum Genet 53 (2008) 534-545
    • (2008) J Hum Genet , vol.53 , pp. 534-545
    • Tabata, A.1    Sheng, J.S.2    Ushikai, M.3    Song, Y.Z.4    Gao, H.Z.5    Lu, Y.B.6
  • 10
    • 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 Y.B., Kobayashi K., Ushikai M., Tabata A., Iijima M., Li M.X., 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 (2005) 338-346
    • (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    Li, M.X.6
  • 11
    • 33646175950 scopus 로고    scopus 로고
    • A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency
    • [in Chinese]
    • Song Y.Z., Hao H., Ushikai M., Liu G.S., Xiao X., Saheki T., et al. A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency. Zhongguo Dang Dai Er Ke Za Zhi 8 (2006) 125-128 [in Chinese]
    • (2006) Zhongguo Dang Dai Er Ke Za Zhi , vol.8 , pp. 125-128
    • Song, Y.Z.1    Hao, H.2    Ushikai, M.3    Liu, G.S.4    Xiao, X.5    Saheki, T.6
  • 12
    • 33746883497 scopus 로고    scopus 로고
    • Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
    • Lee N.C., Chien Y.H., Kobayashi K., Saheki T., Chen H.L., Chiu P.C., et al. Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. J Inherit Metab Dis 29 (2006) 551-555
    • (2006) J Inherit Metab Dis , vol.29 , pp. 551-555
    • Lee, N.C.1    Chien, Y.H.2    Kobayashi, K.3    Saheki, T.4    Chen, H.L.5    Chiu, P.C.6
  • 13
    • 33646854728 scopus 로고    scopus 로고
    • Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants
    • Yeh J.N., Jeng Y.M., Chen H.L., Ni Y.H., Hwu W.L., and Chang M.H. Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J Pediatr 148 (2006) 642-646
    • (2006) J Pediatr , vol.148 , pp. 642-646
    • Yeh, J.N.1    Jeng, Y.M.2    Chen, H.L.3    Ni, Y.H.4    Hwu, W.L.5    Chang, M.H.6
  • 14
    • 44449111480 scopus 로고    scopus 로고
    • SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency
    • [in Chinese]
    • Song Y.Z., Ushikai M., Sheng J.S., Iijima M., and Kobayashi K. SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency. Zhonghua Er Ke Za Zhi 45 (2007) 408-412 [in Chinese]
    • (2007) Zhonghua Er Ke Za Zhi , vol.45 , pp. 408-412
    • Song, Y.Z.1    Ushikai, M.2    Sheng, J.S.3    Iijima, M.4    Kobayashi, K.5
  • 16
    • 38349117203 scopus 로고    scopus 로고
    • Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants
    • Ko J.S., Song J.H., Park S.S., and Seo J.K. Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. J Korean Med Sci 22 (2007) 952-956
    • (2007) J Korean Med Sci , vol.22 , pp. 952-956
    • Ko, J.S.1    Song, J.H.2    Park, S.S.3    Seo, J.K.4
  • 17
    • 84862833518 scopus 로고    scopus 로고
    • Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency
    • [in Chinese]
    • Song Y.Z., Sheng J.S., Ushikai M., Hwu W.L., Zhang C.H., and Kobayashi K. Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency. Zhonghua Er Ke Za Zhi 46 (2008) 411-415 [in Chinese]
    • (2008) Zhonghua Er Ke Za Zhi , vol.46 , pp. 411-415
    • Song, Y.Z.1    Sheng, J.S.2    Ushikai, M.3    Hwu, W.L.4    Zhang, C.H.5    Kobayashi, K.6
  • 18
    • 0036431028 scopus 로고    scopus 로고
    • Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids
    • Ben-Shalom E., Kobayashi K., Shaag A., Yasuda T., Gao H.Z., Saheki T., et al. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab 77 (2002) 202-208
    • (2002) Mol Genet Metab , vol.77 , pp. 202-208
    • Ben-Shalom, E.1    Kobayashi, K.2    Shaag, A.3    Yasuda, T.4    Gao, H.Z.5    Saheki, T.6
  • 19
    • 33947123048 scopus 로고    scopus 로고
    • Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet
    • Dimmock D., Kobayashi K., Iijima M., Tabata A., Wong L.J., Saheki T., et al. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics 119 (2007) e773-e777
    • (2007) Pediatrics , vol.119
    • Dimmock, D.1    Kobayashi, K.2    Iijima, M.3    Tabata, A.4    Wong, L.J.5    Saheki, T.6
  • 21
    • 41849141911 scopus 로고    scopus 로고
    • Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China
    • Song Y.Z., Li B.X., Hao H., Xin R.L., Zhang T., Zhang C.H., et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China. Clin Biochem 41 (2008) 616-620
    • (2008) Clin Biochem , vol.41 , pp. 616-620
    • Song, Y.Z.1    Li, B.X.2    Hao, H.3    Xin, R.L.4    Zhang, T.5    Zhang, C.H.6
  • 22
    • 28444498372 scopus 로고    scopus 로고
    • Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13
    • Takaya J., Kobayashi K., Ohashi A., Ushikai M., Tabata A., Fujimoto S., et al. Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13. Metabolism 54 (2005) 1615-1619
    • (2005) Metabolism , vol.54 , pp. 1615-1619
    • Takaya, J.1    Kobayashi, K.2    Ohashi, A.3    Ushikai, M.4    Tabata, A.5    Fujimoto, S.6
  • 23
    • 17744397286 scopus 로고    scopus 로고
    • Identification of two novel mutations in the SLC25A13 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., Jalil M.A., et al. 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 (2000) 537-545
    • (2000) Hum Genet , vol.107 , pp. 537-545
    • Yasuda, T.1    Yamaguchi, N.2    Kobayashi, K.3    Nishi, I.4    Horinouchi, H.5    Jalil, M.A.6
  • 24
    • 0036165970 scopus 로고    scopus 로고
    • 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
    • Yamaguchi N., Kobayashi K., Yasuda T., Nishi I., Iijima M., Nakagawa M., et al. 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 (2002) 122-130
    • (2002) Hum Mutat , vol.19 , pp. 122-130
    • Yamaguchi, N.1    Kobayashi, K.2    Yasuda, T.3    Nishi, I.4    Iijima, M.5    Nakagawa, M.6
  • 26
    • 33646755541 scopus 로고    scopus 로고
    • Ponderal index for discrimination between symmetric and asymmetric growth restriction: percentiles for neonates from 30 weeks to 43 weeks of gestation
    • Landmann E., Reiss I., Misselwitz B., and Gortner L. Ponderal index for discrimination between symmetric and asymmetric growth restriction: percentiles for neonates from 30 weeks to 43 weeks of gestation. J Matern Fetal Neonatal Med 19 (2006) 157-160
    • (2006) J Matern Fetal Neonatal Med , vol.19 , pp. 157-160
    • Landmann, E.1    Reiss, I.2    Misselwitz, B.3    Gortner, L.4
  • 27
    • 68049148273 scopus 로고    scopus 로고
    • Lissauer T., and Clayden G. (Eds), Mosby, Spain
    • In: Lissauer T., and Clayden G. (Eds). Illustrated textbook of paediatrics. 3rd ed. (2007), Mosby, Spain 137-138
    • (2007) Illustrated textbook of paediatrics. 3rd ed. , pp. 137-138
  • 28
    • 37649013155 scopus 로고    scopus 로고
    • Prevalence of fatty liver disease and its risk factors in the population of South China
    • Zhou Y.J., Li Y.Y., Nie Y.Q., Ma J.X., Lu L.G., Shi S.L., et al. Prevalence of fatty liver disease and its risk factors in the population of South China. World J Gastroenterol 13 (2007) 6419-6424
    • (2007) World J Gastroenterol , vol.13 , pp. 6419-6424
    • Zhou, Y.J.1    Li, Y.Y.2    Nie, Y.Q.3    Ma, J.X.4    Lu, L.G.5    Shi, S.L.6
  • 29
    • 43449086430 scopus 로고    scopus 로고
    • Visceral fat thickness predicts fatty liver in Koreans with type 2 diabetes mellitus
    • Kim H.J., Cho M.H., Park J.S., Nam J.S., Kang E.S., Ahn C.W., et al. Visceral fat thickness predicts fatty liver in Koreans with type 2 diabetes mellitus. J Korean Med Sci 23 (2008) 256-261
    • (2008) J Korean Med Sci , vol.23 , pp. 256-261
    • Kim, H.J.1    Cho, M.H.2    Park, J.S.3    Nam, J.S.4    Kang, E.S.5    Ahn, C.W.6
  • 30
    • 53249111691 scopus 로고    scopus 로고
    • Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
    • Komatsu M., Yazaki M., Tanaka N., Sano K., Hashimoto E., Takei Y., et al. Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. J Hepatol 48 (2008) 810-820
    • (2008) J Hepatol , vol.48 , pp. 810-820
    • Komatsu, M.1    Yazaki, M.2    Tanaka, N.3    Sano, K.4    Hashimoto, E.5    Takei, Y.6
  • 31
    • 0033630189 scopus 로고    scopus 로고
    • Molecular mechanisms of alpha-fetoprotein gene expression
    • Lazarevich N.L. Molecular mechanisms of alpha-fetoprotein gene expression. Biochemistry (Mosc) 65 (2000) 117-133
    • (2000) Biochemistry (Mosc) , vol.65 , pp. 117-133
    • Lazarevich, N.L.1
  • 32
    • 33749554134 scopus 로고    scopus 로고
    • Characterization of distant enhancers and promoters in the albumin-fetoprotein locus during active and silenced expression
    • Kajiyama Y., Tian J., and Locker J. Characterization of distant enhancers and promoters in the albumin-fetoprotein locus during active and silenced expression. J Biol Chem 281 (2006) 30122-30131
    • (2006) J Biol Chem , vol.281 , pp. 30122-30131
    • Kajiyama, Y.1    Tian, J.2    Locker, J.3
  • 33
    • 20244380465 scopus 로고    scopus 로고
    • A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency
    • Tazawa Y., Abukawa D., Sakamoto O., Nagata I., Murakami J., Iizuka T., et al. A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency. Hepatol Res 31 (2005) 168-171
    • (2005) Hepatol Res , vol.31 , pp. 168-171
    • Tazawa, Y.1    Abukawa, D.2    Sakamoto, O.3    Nagata, I.4    Murakami, J.5    Iizuka, T.6
  • 34
    • 29144480108 scopus 로고    scopus 로고
    • Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier
    • Saheki T., Kobayashi K., Iijima M., Moriyama M., Yazaki M., Takei Y., et al. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Hepatol Res 33 (2005) 181-184
    • (2005) Hepatol Res , vol.33 , pp. 181-184
    • Saheki, T.1    Kobayashi, K.2    Iijima, M.3    Moriyama, M.4    Yazaki, M.5    Takei, Y.6
  • 36
    • 33745736207 scopus 로고    scopus 로고
    • The next challenge in pediatric cholestasis: deciphering the pathogenesis of biliary atresia
    • Bezerra J.A. The next challenge in pediatric cholestasis: deciphering the pathogenesis of biliary atresia. J Pediatr Gastroenterol Nutr 43 (2006) S23-S29
    • (2006) J Pediatr Gastroenterol Nutr , vol.43
    • Bezerra, J.A.1
  • 37
    • 33846426043 scopus 로고    scopus 로고
    • Sepsis-induced cholestasis
    • Chand N., and Sanyal A.J. Sepsis-induced cholestasis. Hepatology 45 (2007) 230-241
    • (2007) Hepatology , vol.45 , pp. 230-241
    • Chand, N.1    Sanyal, A.J.2
  • 38
    • 33750610841 scopus 로고    scopus 로고
    • Hepatobiliary transporters and drug-induced cholestasis
    • Pauli-Magnus C., and Meier P.J. Hepatobiliary transporters and drug-induced cholestasis. Hepatology 44 (2006) 778-787
    • (2006) Hepatology , vol.44 , pp. 778-787
    • Pauli-Magnus, C.1    Meier, P.J.2
  • 40
    • 0037027915 scopus 로고    scopus 로고
    • Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry
    • Kuhara T. Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. J Chromatogr B Anal Technol Biomed Life Sci 781 (2002) 497-517
    • (2002) J Chromatogr B Anal Technol Biomed Life Sci , vol.781 , pp. 497-517
    • Kuhara, T.1
  • 41
    • 4644292957 scopus 로고    scopus 로고
    • Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency
    • Tamamori A., Fujimoto A., Okano Y., Kobayashi K., Saheki T., Tagami Y., et al. Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. Pediatr Res 56 (2004) 608-614
    • (2004) Pediatr Res , vol.56 , pp. 608-614
    • Tamamori, A.1    Fujimoto, A.2    Okano, Y.3    Kobayashi, K.4    Saheki, T.5    Tagami, Y.6
  • 42
    • 39149126354 scopus 로고    scopus 로고
    • Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency
    • Feillet F., Merten M., Battaglia-Hsu S.F., Rabier D., Kobayashi K., Straczek J., et al. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. J Hepatol 48 (2008) 517-522
    • (2008) J Hepatol , vol.48 , pp. 517-522
    • Feillet, F.1    Merten, M.2    Battaglia-Hsu, S.F.3    Rabier, D.4    Kobayashi, K.5    Straczek, J.6
  • 43
    • 33845194877 scopus 로고    scopus 로고
    • Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes
    • Tokuhara D., Iijima M., Tamamori A., Ohura T., Takaya J., Maisawa S., et al. Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. Mol Genet Metab 90 (2007) 30-36
    • (2007) Mol Genet Metab , vol.90 , pp. 30-36
    • Tokuhara, D.1    Iijima, M.2    Tamamori, A.3    Ohura, T.4    Takaya, J.5    Maisawa, S.6


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