Pathogenesis and pathophysiology of citrullinemia
Citrulline is generally a non-proteineous amino acid and an intermediate for arginine and urea syntheses. Citrullinemia is caused by a deficiency of argininosuccinate synthetase (ASS) and a deficiency of mitochondrial aspartate glutamate carrier (AGC). We discovered SLC25A13 as the causative gene of...
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| Published in | Japanese Journal of Clinical Chemistry Vol. 36; no. 1; pp. 40 - 48 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | Japanese |
| Published |
Japan Society of Clinical Chemistry
2007
一般社団法人 日本臨床化学会 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0370-5633 2187-4077 |
| DOI | 10.14921/jscc1971b.36.1_40 |
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| Abstract | Citrulline is generally a non-proteineous amino acid and an intermediate for arginine and urea syntheses. Citrullinemia is caused by a deficiency of argininosuccinate synthetase (ASS) and a deficiency of mitochondrial aspartate glutamate carrier (AGC). We discovered SLC25A13 as the causative gene of adult-onset type II citrullinemia (CTLN2), which encodes citrin, and established a disease entity of citrin deficiency. Citrin deficiency results in not only CTLN2 but also neonatal cholestatic hepatitis (NICCD). NICCD patients suffer from a variety of symptoms such as citrullinemia, prolonged jaundice, hypoglycemia, galactosemia and hypoproteinemia. Citrin, as the liver-type AGC, playsa role not only in urea, protein and nucleotide biosynthetic pathways by transporting aspartate from mitochondria to cytosol, but also in aerobic glycolysis by transporting NADH reducing equivalent from cytosol to mitochondria as a member of malate aspartate shuttle, which is probably the reason why citrin deficiency patients suffer from a variety of symptoms. The most critical point so far we have known concerning the therapy is that carbohydrate intake or administration may deteriorate the symptoms. |
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| AbstractList | Citrulline is generally a non-proteineous amino acid and an intermediate for arginine and urea syntheses. Citrullinemia is caused by a deficiency of argininosuccinate synthetase (ASS) and a deficiency of mitochondrial aspartate glutamate carrier (AGC). We discovered SLC25A13 as the causative gene of adult-onset type II citrullinemia (CTLN2), which encodes citrin, and established a disease entity of citrin deficiency. Citrin deficiency results in not only CTLN2 but also neonatal cholestatic hepatitis (NICCD). NICCD patients suffer from a variety of symptoms such as citrullinemia, prolonged jaundice, hypoglycemia, galactosemia and hypoproteinemia. Citrin, as the liver-type AGC, playsa role not only in urea, protein and nucleotide biosynthetic pathways by transporting aspartate from mitochondria to cytosol, but also in aerobic glycolysis by transporting NADH reducing equivalent from cytosol to mitochondria as a member of malate aspartate shuttle, which is probably the reason why citrin deficiency patients suffer from a variety of symptoms. The most critical point so far we have known concerning the therapy is that carbohydrate intake or administration may deteriorate the symptoms. Citrulline is generally a non-proteineous amino acid and an intermediate for arginine and urea syntheses. Citrullinemia is caused by a deficiency of argininosuccinate synthetase (ASS) and a deficiency of mitochondrial aspartate glutamate carrier (AGC). We discovered SLC25A13 as the causative gene of adult-onset type II citrullinemia (CTLN2), which encodes citrin, and established a disease entity of citrin deficiency. Citrin deficiency results in not only CTLN2 but also neonatal cholestatic hepatitis (NICCD). NICCD patients suffer from a variety of symptoms such as citrullinemia, prolonged jaundice, hypoglycemia, galactosemia and hypoproteinemia. Citrin, as the liver-type AGC, playsa role not only in urea, protein and nucleotide biosynthetic pathways by transporting aspartate from mitochondria to cytosol, but also in aerobic glycolysis by transporting NADH reducing equivalent from cytosol to mitochondria as a member of malate aspartate shuttle, which is probably the reason why citrin deficiency patients suffer from a variety of symptoms. The most critical point so far we have known concerning the therapy is that carbohydrate intake or administration may deteriorate the symptoms. シトルリンは, アルギニン合成の中間体ならびに尿素合成中間体として生じる, 一般には非タンパク質性のアミノ酸である。シトルリン血症は, 主にargininosuccinate synthetase (ASS) の欠損およびアスパラギン酸・グルタミン酸ミトコンドリア膜輸送体 (AGC) の欠損によって生じる。後者の原因遺伝子SLC25A13産物をシトリンと名づけたことから, 現在シトリン欠損症と称される-疾患概念の樹立に至った。すなわち, シトリン欠損症は, 成人では成人発症II型シトルリン血症 (CTLN2) を, 新生児では胆汁うっ滞性肝炎 (NICCD) を引き起こす。NICCDにおいては, シトルリンの他, 多くの血漿アミノ酸の異常を来たすだけではなく, 遅延性黄疸, 低血糖ガラクトース血症, 低タンパク血症など多彩な症状が見られる。シトリンは肝型のAGCとして, ミトコンドリアから細胞質へのアスパラギン酸の輸送を行い, 尿素合成, タンパク合成, 核酸合成などに関与するのみならず, リンゴ酸アスパラギン酸シャトルの一員として, 細胞質NADH還元当量のミトコンドリアへの輸送にも関与するので, その欠損は多彩な症状を示すものと考えられる。現在判明している最も重要なことは, シトリン欠損症では, 糖質摂取・投与が症状の悪化をもたらす, という点で, 治療上特に注意を要する。 |
| Author | Kobayashi, Keiko Saheki, Takeyori |
| Author_FL | 小林 圭子 佐伯 武頼 |
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| References | 8) Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, Yamashita M, Nagata I, Kono Y, Yasuda T, Yamaguchi N, Saheki T: Infantile cholestatic jaundice associated with adult-onset type II citrullinemia, J Pedia tr, 138: 735-740, 2001. 19) Williamson JR: Role of anion transport in the regulation of metabolism (in Gluconeogenesis: its regulation in mammalian species, eds Hanson RW, Mehlman MA), p.165-238, Wiley, New Yo rk, 1976. 23) Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T: Frequency and distribution in East Asia of 12 mutations identified in the SLC25 A13 gene of Japanese patients with citrin de ficiency, J Hum Genet, 50: 338-346, 2005. 12) Saheki T, Kobayashi K, Miura T, Hashimoto S, Ueno Y, Yamasaki T, Araki H, Nara H, Shiozaki Y, Sameshima Y, Suzuki M, Yamauchi Y, Sakazume Y, Akiyama K, Yamamura Y: Serum am ino acid pattern of type II citrullinemic patients and ef fect of oral administration of citrulline, J Clin Bio chem Nutr, 1: 129-142, 1986. 18) Yajima Y, Hirasawa T, Saheki T: Diurnal fluctuation of blood ammonia levels in adu lt-type citrullinemia, Tohoku J Exp Med, 137: 213-220, 1982. 21) Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, Kubozono O, Saheki T: 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. 22) Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T: Pyruvate ameliorates the defect in ureogenesis from ammoni a in citrindeficient mice, J Hepatol, 44: 930-938, 2006. 14) Saheki T, Kobayashi K, Iijima M, Li MX, Horiuchi M, Tabata A, Lu YB, Ushikai M, Tera shi M, Moriyama M: Pathophysiology of citrin deficiency (in Hepatic Encephalopathy and N itrogen Metabolism. Eds Haussinger D, Kir cheis G, Schliess F), p.320-328, Springer, Dordrecht, 2006. 17) 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: 188-95, 2005. 20) Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Lap-Chee Tsui LC: Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia, Mol Cell Biol, 24: 527-536, 2004. 1) 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. 4) Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F: Citrin and aralarl are Ca2+-stimulated aspartate/glutamate transporters in mitochondria, EMBO J, 20: 5060-5069, 2001. 9) Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, Tabata M, Inoue Y, Ohwada S, Kasahara M, Morishita Y, Kimura M, Saheki T, Morikawa A: Possible clinical and histologic manifestations of adult-onset type II cit rullinemia in early infancy, J Pediatr, 138: 741-743, 2001. 13) Kobayashi K, Horiuchi M, Saheki T: Pancreatic secretory trypsin inhibitor as a diagnost ic marker for adult-onset type II citrullinemia, Hepat ology, 25: 1160-1165, 1997. 2) Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T: A search for the primary abnormality in adult-onset type II citrullinemia, Am J Hum Genet. 53: 1024-1030, 1993. 3) Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T: The gene mutated in adultonset type II citrullinaemia encodes a putative mitochondrial carrier protein, Nat Genet, 22: 159-163, 1999. 5) Begum L, Jalil MA, Kobayashi K, Iijima M, Li MX, Yasuda T, Horiuchi M, del Arco A, SatrUstegui J, Saheki T: Expression of three mitochondrial solute carriers, citrin, aralarl and ornithine transporter, in relation to urea cycle in mice, Biochim Biophys Acta, 1574: 283-292, 2002. 15) 玉川進, 中村洋之, 片野俊男, 吉沢睦, 大竹一栄, 窪田達也: 高カロリー輸液で意識障害を繰り返した成人型シトルリン血症の1症例, 日本集中治療医学会雑誌1, 37-41, 1993. 6) Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodes M, Wasant P, Yoshida I, De Meirleir L, Jalil MA, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotypephenotype correlation in 38 classical citrullinemia patients, Hum Mutat, 22: 24-34, 2003. 10) Kobayashi K, Saheki, T: Citrin deficiency, Gene Reviews [www.genetests.org], 200 5. 7) Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T: Neonatal presentation of adult-onset type II citrullinemia, Hum Genet, 108: 87-90, 2001. 11) Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T: Neonatal intrahepatic cholestasis caused by citrin deficie ncy: severe hepatic dysfunction in an infant requiring liver transplantation, Eur J Pediatr, 161: 609-613, 20 02. 16) Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T, Shinohara Y: 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. |
| References_xml | – reference: 8) Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, Yamashita M, Nagata I, Kono Y, Yasuda T, Yamaguchi N, Saheki T: Infantile cholestatic jaundice associated with adult-onset type II citrullinemia, J Pedia tr, 138: 735-740, 2001. – reference: 19) Williamson JR: Role of anion transport in the regulation of metabolism (in Gluconeogenesis: its regulation in mammalian species, eds Hanson RW, Mehlman MA), p.165-238, Wiley, New Yo rk, 1976. – reference: 23) Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T: Frequency and distribution in East Asia of 12 mutations identified in the SLC25 A13 gene of Japanese patients with citrin de ficiency, J Hum Genet, 50: 338-346, 2005. – reference: 2) Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T: A search for the primary abnormality in adult-onset type II citrullinemia, Am J Hum Genet. 53: 1024-1030, 1993. – reference: 11) Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T: Neonatal intrahepatic cholestasis caused by citrin deficie ncy: severe hepatic dysfunction in an infant requiring liver transplantation, Eur J Pediatr, 161: 609-613, 20 02. – reference: 10) Kobayashi K, Saheki, T: Citrin deficiency, Gene Reviews [www.genetests.org], 200 5. – reference: 13) Kobayashi K, Horiuchi M, Saheki T: Pancreatic secretory trypsin inhibitor as a diagnost ic marker for adult-onset type II citrullinemia, Hepat ology, 25: 1160-1165, 1997. – reference: 17) 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: 188-95, 2005. – reference: 16) Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T, Shinohara Y: 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. – reference: 1) 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. – reference: 15) 玉川進, 中村洋之, 片野俊男, 吉沢睦, 大竹一栄, 窪田達也: 高カロリー輸液で意識障害を繰り返した成人型シトルリン血症の1症例, 日本集中治療医学会雑誌1, 37-41, 1993. – reference: 14) Saheki T, Kobayashi K, Iijima M, Li MX, Horiuchi M, Tabata A, Lu YB, Ushikai M, Tera shi M, Moriyama M: Pathophysiology of citrin deficiency (in Hepatic Encephalopathy and N itrogen Metabolism. Eds Haussinger D, Kir cheis G, Schliess F), p.320-328, Springer, Dordrecht, 2006. – reference: 18) Yajima Y, Hirasawa T, Saheki T: Diurnal fluctuation of blood ammonia levels in adu lt-type citrullinemia, Tohoku J Exp Med, 137: 213-220, 1982. – reference: 12) Saheki T, Kobayashi K, Miura T, Hashimoto S, Ueno Y, Yamasaki T, Araki H, Nara H, Shiozaki Y, Sameshima Y, Suzuki M, Yamauchi Y, Sakazume Y, Akiyama K, Yamamura Y: Serum am ino acid pattern of type II citrullinemic patients and ef fect of oral administration of citrulline, J Clin Bio chem Nutr, 1: 129-142, 1986. – reference: 21) Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, Kubozono O, Saheki T: 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. – reference: 6) Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodes M, Wasant P, Yoshida I, De Meirleir L, Jalil MA, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotypephenotype correlation in 38 classical citrullinemia patients, Hum Mutat, 22: 24-34, 2003. – reference: 9) Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, Tabata M, Inoue Y, Ohwada S, Kasahara M, Morishita Y, Kimura M, Saheki T, Morikawa A: Possible clinical and histologic manifestations of adult-onset type II cit rullinemia in early infancy, J Pediatr, 138: 741-743, 2001. – reference: 5) Begum L, Jalil MA, Kobayashi K, Iijima M, Li MX, Yasuda T, Horiuchi M, del Arco A, SatrUstegui J, Saheki T: Expression of three mitochondrial solute carriers, citrin, aralarl and ornithine transporter, in relation to urea cycle in mice, Biochim Biophys Acta, 1574: 283-292, 2002. – reference: 22) Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T: Pyruvate ameliorates the defect in ureogenesis from ammoni a in citrindeficient mice, J Hepatol, 44: 930-938, 2006. – reference: 4) Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F: Citrin and aralarl are Ca2+-stimulated aspartate/glutamate transporters in mitochondria, EMBO J, 20: 5060-5069, 2001. – reference: 20) Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Lap-Chee Tsui LC: Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia, Mol Cell Biol, 24: 527-536, 2004. – reference: 3) Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T: The gene mutated in adultonset type II citrullinaemia encodes a putative mitochondrial carrier protein, Nat Genet, 22: 159-163, 1999. – reference: 7) Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T: Neonatal presentation of adult-onset type II citrullinemia, Hum Genet, 108: 87-90, 2001. |
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| Snippet | Citrulline is generally a non-proteineous amino acid and an intermediate for arginine and urea syntheses. Citrullinemia is caused by a deficiency of... |
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| SubjectTerms | citrin citrullinemia CTLN1 CTLN2 hyperammonemia mitochondrial aspartate glutamate carrier NICCD アスパラギン酸・グルタミン酸ミトコンドリア膜輸送体 シトリン 高アンモニア血症 |
| Title | Pathogenesis and pathophysiology of citrullinemia |
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