Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency

Metabolic Brain Disease

Volumn 17, Issue 4, 2002, Pages 335-346

  Saheki, Takeyori ^a   Kobayashi, Keiko ^a   Iijima, Mikio ^a   Nishi, Ikumi ^a   Yasuda, Tomotsugu ^a   Yamaguchi, Naoki ^a   Gao, Hong Zhi ^a   Jalil, Md Abdul ^a   Begum, Laila ^a   Li, Meng Xian ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Aspartate glutamate carrier; Citrin; Citrullinemia; CTLN2; Hepatic encephalopathy; SLC25A13

Indexed keywords

ARALAR; ARGININOSUCCINATE SYNTHASE; ASPARTIC ACID; CALCIUM BINDING PROTEIN; CARRIER PROTEIN; ERIODICTYOL 7 O GLUCOSIDE; GLUTAMIC ACID; ISOPROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; UNCLASSIFIED DRUG;

ADULT; ADULTHOOD; AMINO ACID METABOLISM; CITRIN DEFICIENCY; CITRULLINEMIA; CONFERENCE PAPER; CONTROLLED STUDY; FEMALE; GENE MUTATION; HEPATIC ENCEPHALOPATHY; HUMAN; INTRAHEPATIC CHOLESTASIS; MAJOR CLINICAL STUDY; MALE; MITOCHONDRION; NEWBORN; NEWBORN PERIOD; PATHOGENESIS; PATHOPHYSIOLOGY; PROTEIN DEFECT; SYMPTOMATOLOGY; UREA CYCLE;

CALCIUM-BINDING PROTEINS; CHOLESTASIS, INTRAHEPATIC; CITRULLINE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MEMBRANE TRANSPORT PROTEINS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL PROTEINS; MUTATION; ORGANIC ANION TRANSPORTERS;

EID: 12244299896     PISSN: 08857490     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021961919148     Document Type: Conference Paper

References (58)

1. Bisaccia, F., de Palma, A., and Palmieri, F. (1992). Identification and purification of the aspartate/glutamate carrier from bovine heart mitochondria. Biochim. Biophys. Acta 1106:291-296.
2. Chow, W.C., Ng, H.S., Tan, I.K., and Thum, T.Y. (1996). Case report: Recurrent hyperammonemic encephalopathy due to citrullinaemia in a 52 year old man. J. Gastroenterol. Hepatol. 11:621-625.
3. Crackower, M.A., Sinasac, D.S., Lee, J.R., Herbrick, J.-A., Tsui, L.-C., and Scherer, S.W. (1999). Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenet. Cell Genet. 87:197-198.
4. del Arco, A., and Satrústegui, J. (1998). Molecular cloning of aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. J. Biol. Chem. 273:23327-23334.
5. del Arco, A., Agudo, M., and Satrústegui, J. (2000). Characterization of a second member ot the subfamily ot calcium-binding mitochondrial carriers expressed in human non-excitable tissues. Biochem. J. 345:725-732.
6. Dierks, T., and Krämer, R. (1988). Asymmetric orientation of the reconstituted aspartate/glutamate carrier from mitochondria. Biochim. Biophys. Acta 937;112-126.
7. Hwu, W.-L., Kobayashi, K., Hu, Y.-H., Yamaguchi, N., Saheki, T., Chou, S.-P., et al. (2001). A Chinese adult-onset type II citrullinemia patient with 851de14/1638ins23 mutations in the SLC25A13 gene. J. Med. Genet. 38:E24.
8. Iijima, M., Jalil, M.A., Begum, L., Yasuda, T, Yamaguchi, N., Li, M.X., et al. (2001). Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: Tissue and subcellular localization of citrin. Adv. Enzyme Regul. 41:325-342.
9. Ikeda, S., Yazaki, M., Takei, Y., Ikegami, T., Hashikura, Y., Kawasaki, S., et al. (2001). Type II (adult onset) citrullinemia: Clinical pictures and the therapeutic effect of liver transplantation. J. Neurol. Neurosurg. Psychiatry 71:663-670.
10. Imamura, Y., Kobayashi, K., Yamashita, T., Saheki, T., Ichiki, H., Hashida, S., et al. (1987). Clinical application of enzyme immunoassay in the analysis of citrullinemia. Clin. Chim. Acta 164:201-208.
11. Kakinoki, H., Kobayashi, K., Terazono, H., Nagata, Y., and Saheki, T. (1997). Mutations and DNA diagnoses of classical citrullinemia. Hum. Mutat. 9:250-259.
12. Kasahara, M., Ohwada, S., Takeichi, T., Kaneko, H., Tomomasa, T., Morikawa, A., et al. (2001). Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor. Transplantation 71:157-159.
13. Kawamoto, S., Strong, R.W., Kerlin, P., Lynch, S.V., Steadman, C., Kobayashi, K., et al. (1997). Orthotopic liver transplantation for adult-onset type II citrullinaemia. Clin. Transplantation 11:453-458.
14. Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., et al. (1986). Messenger RNA coding for argininosuccinate synthetase in citrullinemia. Am. J. Hum. Genet. 38:667-680.
15. Kobayashi, K., Ichiki, H., Saheki, T., Tatsuno, M., Uchiyama, C., Nukada, O., et al. (1987). Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia. Hum. Genet. 76:27-32.
16. Kobayashi, K., Jackson, M.J., Tick, D.B., O'Brien, W.E., and Beaudet, A.L. (1990). Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J. Biol. Chem. 265:11361-11367.
17. Kobayashi, K., Rosenbloom, C., Beaudet, A.L., and O'Brien, W.E. (1991). Additional mutations in argininosuccinate synthetase causing citrullinemia. Mol. Biol. Med. 8:95-100.
18. Kobayashi, K., Shaheen, N., Kumashiro, R., Tanikawa, K., O'Brien, W.E., Beaudet, A.L., et al. (1993). A search for the primary abnormality in adult-onset type II citrullinemia. Am. J. Hum. Genet. 53:1024-1030.
19. Kobayashi, K., Shaheen, N., Terazono, H., and Saheki, T. (1994). Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. Am. J. Hum. Genet. 55:1103-1112.
20. Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., and Saheki, T. (1995a). Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia. Hum. Genet. 96:454-463.
21. Kobayashi, K., Nakata, M., Terazono, H., Shinsato, T., and Saheki, T. (1995b). Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia. FEBS Lett. 372:69-73.
22. Kobayashi, K., Horiuchi, M., and Saheki, T. (1997). Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia. Hepatology 25:1160-1165.
23. Kobayashi, K., Sinasac, D.S., Iijima, M., Boright, A.P., Begum, L., Lee, J.P., et al. (1999). The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 22:159-163.
24. Kobayashi, K., Iijima, M., Yasuda, T., Sinasac, D.S., Yamaguchi, N., Tsui, L.-C., et al. (2000). Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein. In: Pochet, R., Donato, R., Haiech, J., Heizmann C., and Gerke, V. (eds.), Calcium: The Molecular Basis of Calcium Action in Biology and Medicine, Kluwer Academic, Dordrecht, The Netherlands, pp. 557-579.
25. LaNoue, K.F., and Schoolwerth, A.C. (1979). Metabolite transport in mitochondria. Annu. Rev. Biochem. 48:871-922.
26. Maruyama, H., Ogawa, M., Nishio, T., Kobayashi, K., Saheki, T., and Sunohara, N. (2001). Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. J. Neurol. Sci. 182:167-170.
27. Maxwell, E. (1957). The enzymatic interconversion of uridine diphosphogalactose and uridine diphosphoglucose. J. Biol. Chem. 229:139-151.
28. McKusick, V.A. (1998). Citrullinemia. In: McKusick, V. A. (ed.), Mendelian Inheritance in Man (Vol. 3), Johns Hopkins University Press, Baltimore, MD, pp. 2093-2095.
29. McMurray, W.C., Mohyuddin, F., Rossiter, R.J., Rathbun, J.C., Valentine, G.H., Koegler, S.J., et al. (1962). Citrullinuria: A new aminoaciduria associated with mental retardation. Lancet i: 138.
30. Ohura, T., Kobayashi, K., Tazawa, Y., Nishi, I., Abukawa, D., Sakamoto, O., et al. (2001). Neonatal presentation of adult-onset type II citrullinemia. Hum. Genet. 108:87-90.
31. Onuki, J., Nishimura, S., Yoshino, K., Takahashi, H., Suzuki, T., Abe, K., et al. (2000). Genetic abnormality in 2 brothers of a case with adult onset type II citrullinemia: Trial of pre-onset genetic diagnosis. Acta Hepatol. Jpn. 41:555-560.
32. Palmieri, F., Stipani, I., and Iacobazzi, V. (1979). The transport of L-cysteinesulfinate in rat liver mitochondria. Biochim. Biophys. Acta 555:531-546.
33. 2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 20:5060-5069.
34. Roerdink, F.H., Gouw, W.L.M., Okken, A., Van der Blij, J.F., Haan, G.L., Hommes, F.A., et al. (1973). Citrullinemia, report of a case, with studies on antenatal diagnosis. Pediatr. Res. 7:863-869.
35. Saheki, T., Tsuda, M., Takada, S., Kusumi, K., and Katsunuma, T. (1980). Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man. Adv. Enzyme Regul. 18:221-238.
36. Saheki, T., Ueda, A., Hosoya, M., Kusumi, K., Takada, S., Tsuda, M., et al. (1981). Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. Clin. Chim. Acta 109:325-335.
37. Saheki, T., Ueda, A., Iizima, K., Yamada, N., Kobayashi, K., Takahashi, K., et al. (1982). Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients. Clin. Chim. Acta 118:93-97.
38. Saheki, T., Ueda, A., Hosoya, M., Sase, M., Nakano, K., and Katsunuma, T. (1983). Enzymatic analysis of citrullinemia (12 cases) in Japan. Adv. Exp. Med. Biol. 153:63-76.
39. Saheki, T., Nakano, K., Kobayashi, K., Imamura, Y., Itakura, Y., Sase, M., et al. (1985a). Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan. J. Inherit. Metab. Dis. 8:155-156.
40. Saheki, T., Sase, M., Nakano, K., and Yagi, Y. (1985b). Arginine metabolism in citrullinemic patients. In: Mori, A., Cohen, B. D., and Lowenthal, A. (eds.), Guanidines, Plenum, New York, pp. 149-158.
41. Saheki, T., Kobayashi, K., Miura, T., Hashimoto, S., Ueno, Y., Yamasaki, T., et al. (1986). Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline. J. Clin. Biochem. Nutr. 1:129-142.
42. Saheki, T., Kobayashi, K., Ichiki, H., Matuo, S., Tatsuno, M., Imamura, Y., et al. (1987a). Molecular basis of enzyme abnormalities in urea cycle disorders: With special reference to citrullinemia and argininosuccinic aciduria. Enzyme 38:227-232.
43. Saheki, T., Kobayashi, K., and Inoue, I. (1987b). Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches. Rev. Physiol. Biochem. Pharmacol. 108:21-68.
44. Saheki, T., Kobayashi, K., Inoue, I., Matuo, S., Hagihara, S., and Noda, T. (1987c). Increased urinary excretion of argininosuccinate in type II citrullinemia. Clin. Chim. Acta 170:297-304.
45. Sase, M., Kobayashi, K., Imamura, Y., Saheki, T., Nakano, K., Miura, M., et al. (1985). Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia. Hum. Genet. 69:130-134.
46. Sinasac, D.S., Crackower, M.A., Lee, J.R., Kobayashi, K., Saheki, T., Scherer, S.W., et al. (1999). Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics 62:289-292.
47. Tazawa, Y., Kobayashi, K., Ohura, T., Abukawa, D., Nishinomiya, F., Hosoda, Y., et al. (2001). Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J. Pediatr. 138:735-740.
48. Todo, S., Starzl, T.E., Tzakis, A., Benkov, KJ., Kalousek, F., Saheki, T., et al. (1992). Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 15:419-422.
49. Tomomasa, T., Kobayashi, K., Kaneko, H., Shimura, H., Fukusato, T., Tabata, M., et al. (2001). Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J. Pediatr. 138:741-743.
50. Tsuboi, Y., Fujino, Y., Kobayashi, K., Saheki, T., and Yamada, T. (2001). High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia. Neurology 57:933.
51. Vidailhet, M., Levin, B., Dautrevaux, M., Paysant, P., Gelot, S., Badonnel, Y., et al. (1971). Citrullinemie. Arch. France Pediatr. 28:521-532.
52. Vilaseca, M.A., Kobayashi, K., Briones, P., Lambruschini, N., Campistol, J., Tabata, A., et al. (2001) Phenotype and genotype heterogeneity in Mediterranean citrullinemia. Mol. Genet. Metab. 74:396-398.
53. Williamson, J.R. (1976). Role of anion transport in the regulation of metabolism. In: Hanson,R. W., and Mehlman, M. A. (eds.), Gluconeogenesis: Its Regulation in Mammalian Species, Wiley, New York, pp. 165-238.
54. Yagi, Y., Saheki, T., Imamura, Y., Kobayashi, K., Sase, M., Nakano, K., et al. (1988). The heterogeneous distribution of argininosuccinate synthetase in the liver of type II citrullinemic patients: Its specificity and possible clinical implications. Am. J. Clin. Pathol. 89:735-741.
55. Yajima, Y., Hirasawa, T., and Saheki, T. (1982). Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia. Tohoku J. Exp. Med. 137:213-220.
56. Yamaguchi, N., Kobayashi, K., Yasuda, T., Nishi, I., Iijima, M., Nakagawa, M., et al. (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 method for the nine mutations. Hum. Mutat. 19:122-130.
57. Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M.A., et al. (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. 107:537-545.
58. Yazaki, M., Ikeda, S., Takei, Y., Yanagisawa, N., Matsunami, H., Hashikura, Y., et al. (1996). Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. Transplantation 62:1679-1681.