메뉴 건너뛰기




Volumn 44, Issue 3, 2005, Pages 188-195

Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2)

Author keywords

Brain edema; Citrin; Cytosolic NADH; Glycerol; Mannitol; Type II citrullinemia

Indexed keywords

AMMONIA; APROTININ; ARGININE; CHLORPROMAZINE; CITRULLINE; GLYCEROL; HALOPERIDOL; KANAMYCIN; LACTULOSE; LORAZEPAM; MANNITOL; NITRAZEPAM; PHENYTOIN;

EID: 17744379398     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.44.188     Document Type: Article
Times cited : (61)

References (32)
  • 1
    • 0001034416 scopus 로고
    • Urea cycle enzymes
    • 7 th ed. Scriver CR, Beaudet AL., Sly WS, Valle D, Eds. McGraw-Hill, New York
    • Brusilow SW, Horwich AL. Urea cycle enzymes. in: The Metabolic and Molecular Bases of Inherited Disease, 7 th ed. Scriver CR, Beaudet AL., Sly WS, Valle D, Eds. McGraw-Hill, New York, 1995: 1187-1232.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 1187-1232
    • Brusilow, S.W.1    Horwich, A.L.2
  • 2
    • 0023076114 scopus 로고
    • Hereditary disorders of the urea cycle in man: Biochemical and molecular approach
    • Saheki T, Kobayashi K, Inoue I. Hereditary disorders of the urea cycle in man: biochemical and molecular approach. 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
  • 3
    • 0033037729 scopus 로고    scopus 로고
    • The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
    • Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinaemia 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
  • 4
    • 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, 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: 333-341, 2002.
    • (2002) J. Hum. Genet. , vol.47 , pp. 333-341
    • Saheki, T.1    Kobayashi, K.2
  • 5
    • 0034771008 scopus 로고    scopus 로고
    • Type II (adult onset) citrullinaemia: Clinical pictures and the therapeutic effect of liver transplantation
    • Ikeda S, Yazaki M, Takei Y, et al. Type II (adult onset) citrullinaemia: 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
  • 6
    • 0037700913 scopus 로고    scopus 로고
    • Liver transplantation as treatment for neurological disorders
    • Ikeda S, Takei Y, Hashikura Y. Liver transplantation as treatment for neurological disorders. Expert Rev Neurotherapeutics 3 547-555, 2003.
    • (2003) Expert Rev. Neurotherapeutics , vol.3 , pp. 547-555
    • Ikeda, S.1    Takei, Y.2    Hashikura, Y.3
  • 7
    • 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, et al. Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. Transplantation 62: 1679-1684, 1996.
    • (1996) Transplantation , vol.62 , pp. 1679-1684
    • Yazaki, M.1    Ikeda, S.2    Takei, Y.3
  • 8
    • 11144354271 scopus 로고    scopus 로고
    • Feasibility of auxiliary partial orthotopic liver transplanation from living donors for patients with adult-onset type II citrullinemia
    • Yazaki M, Hashikura Y, Takei Y, et al. Feasibility of auxiliary partial orthotopic liver transplanation 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
  • 9
    • 0036143991 scopus 로고    scopus 로고
    • A patient with adult-onset type II citrullinemia on a long-term hemodialysis: Reversal of clinical symptoms and brain MRI findings
    • Oshiro S, Kochinda T, Tana T, et al. A patient with adult-onset type II citrullinemia on a long-term hemodialysis: reversal of clinical symptoms and brain MRI findings. Am J Kidney Dis 39: 189-192, 2002.
    • (2002) Am. J. Kidney Dis. , vol.39 , pp. 189-192
    • Oshiro, S.1    Kochinda, T.2    Tana, T.3
  • 10
    • 0036022276 scopus 로고    scopus 로고
    • Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation
    • Takashima Y, Koide M, Fukunaga H, et al. Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation. Intern Med 41: 555-560, 2002.
    • (2002) Intern. Med. , vol.41 , pp. 555-560
    • Takashima, Y.1    Koide, M.2    Fukunaga, H.3
  • 11
    • 0022802798 scopus 로고
    • 3 level of adult type citrullinemia
    • (in Japanese)
    • 3 level of adult type citrullinemia. Rinsho Byori 34: 1213-1218, 1986 (in Japanese).
    • (1986) Rinsho Byori , vol.34 , pp. 1213-1218
    • Shoda, T.1    Ochi, M.2    Murase, M.3
  • 12
    • 0039423885 scopus 로고
    • An autopsy case of adult-type citrullinemia accompanied with cerebral bleeding
    • (in Japanese)
    • Yamamoto S, Hino K, Ohumi T, et al. An autopsy case of adult-type citrullinemia accompanied with cerebral bleeding. Naika 58 881-883, 1986 (in Japanese).
    • (1986) Naika , vol.58 , pp. 881-883
    • Yamamoto, S.1    Hino, K.2    Ohumi, T.3
  • 13
    • 0023183040 scopus 로고
    • A case of citrullinemia with cluster type distribution of argininosuccinate synthetase in the liver
    • (in Japanese, Abstract in English)
    • Ikeda M, Orimo S, Kurosawa T, Arai M, Hiyamuta E. A case of citrullinemia with cluster type distribution of argininosuccinate synthetase in the liver. Rinsho Shinkeigaku (Clin Neurol) 27: 931-935, 1987 (in Japanese, Abstract in English).
    • (1987) Rinsho Shinkeigaku (Clin. Neurol.) , vol.27 , pp. 931-935
    • Ikeda, M.1    Orimo, S.2    Kurosawa, T.3    Arai, M.4    Hiyamuta, E.5
  • 14
    • 0025823284 scopus 로고
    • Adverse effects of branched chain amino acid transfusion on type II citrullinemia
    • (in Japanese, Abstract in English)
    • Shindo K, Tsunoda S, Shiozawa Z. Adverse effects of branched chain amino acid transfusion on type II citrullinemia. Rinsho Shinkeigaku (Clin Neurol) 31: 407-411, 1991 (in Japanese, Abstract in English).
    • (1991) Rinsho Shinkeigaku (Clin. Neurol.) , vol.31 , pp. 407-411
    • Shindo, K.1    Tsunoda, S.2    Shiozawa, Z.3
  • 15
    • 0025946964 scopus 로고
    • The correlation of consciousness level and the concentration of CSF ammonia in a patient with adult-type citrullinemia
    • (in Japanese, Abstract in English)
    • Yuki N, Kaneko K, Yanagisawa K, Ohno T, Miyatake T. The correlation of consciousness level and the concentration of CSF ammonia in a patient with adult-type citrullinemia. Rinsho Shinkeigaku (Clin Neurol) 31: 765-767, 1991 (in Japanese, Abstract in English).
    • (1991) Rinsho Shinkeigaku (Clin. Neurol.) , vol.31 , pp. 765-767
    • Yuki, N.1    Kaneko, K.2    Yanagisawa, K.3    Ohno, T.4    Miyatake, T.5
  • 16
    • 0027054382 scopus 로고
    • A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma
    • (in Japanese, Abstract in English)
    • Ishii A, Ohkoshi N, Oka Y, Ban S, Takahashi A. A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma. Rinsho Shinkeigaku (Clin Neurol) 32: 853-858, 1992 (in Japanese, Abstract in English).
    • (1992) Rinsho Shinkeigaku (Clin. Neurol.) , vol.32 , pp. 853-858
    • Ishii, A.1    Ohkoshi, N.2    Oka, Y.3    Ban, S.4    Takahashi, A.5
  • 17
    • 0034329775 scopus 로고    scopus 로고
    • 3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia
    • 3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia. Intern Med 39: 925-929, 2000.
    • (2000) Intern. Med. , vol.39 , pp. 925-929
    • Ishikawa, F.1    Nakamuta, M.2    Kato, M.3
  • 18
    • 0036913040 scopus 로고    scopus 로고
    • A case of adult-onset type II citrullinemia in which oral administration of L-arginine granules improved the patient's encephalopathy and the increased level of ammonia
    • (in Japanese)
    • Hoshi N, Mukai S, Shinzawa J, et al. A case of adult-onset type II citrullinemia in which oral administration of L-arginine granules improved the patient's encephalopathy and the increased level of ammonia. Kanzo 43: 492-497, 2002 (in Japanese).
    • (2002) Kanzo , vol.43 , pp. 492-497
    • Hoshi, N.1    Mukai, S.2    Shinzawa, J.3
  • 19
    • 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, 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
  • 20
    • 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
  • 21
    • 0242606867 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in a case of adult-onset type II citrullinemia
    • Hagiwara N, Sekijima Y, Takei Y, 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
  • 22
    • 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, 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 107 537-545, 2000.
    • (2000) Hum. Genet. , vol.107 , pp. 537-545
    • Yasuda, T.1    Yamaguchi, N.2    Kobayashi, K.3
  • 23
    • 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, 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: 122-130, 2002.
    • (2002) Hum. Mutat. , vol.19 , pp. 122-130
    • Yamaguchi, N.1    Kobayashi, K.2    Yasuda, T.3
  • 24
    • 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, 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 Matab 81: S20-S26, 2004.
    • (2004) Mol. Genet. Matab. , vol.81
    • Saheki, T.1    Kobayashi, K.2    Iijima, M.3
  • 25
    • 17944378173 scopus 로고    scopus 로고
    • 2+-stimulated aspartate/glutamate transporters in mitochondria
    • 2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J 20: 5060-5069, 2001.
    • (2001) Embo J. , vol.20 , pp. 5060-5069
    • Palmieri, L.1    Pardo, B.2    Lasorsa, F.M.3
  • 26
    • 0012829547 scopus 로고
    • The mechanism of ICP reducing effect of mannitol
    • Ishii S, Nagai H, Brock M, Eds. Springer-Verlag, Heidelberg
    • Takagi H, Saitoh T, Kitahara T, Morii S, Ohwada T, Yada K. The mechanism of ICP reducing effect of mannitol. in: Intracranial Pressure, Ishii S, Nagai H, Brock M, Eds. Springer-Verlag, Heidelberg, 1993: 729-737.
    • (1993) Intracranial Pressure , pp. 729-737
    • Takagi, H.1    Saitoh, T.2    Kitahara, T.3    Morii, S.4    Ohwada, T.5    Yada, K.6
  • 27
    • 0014572596 scopus 로고
    • Changes in the concentrations of hepatic metabolites on administration of dihydroxyacetone or glycerol to starved rats and their relationship to the control of ketogenesis
    • Williamson DH, Veloso D, Ellington EV, Krebs HA. Changes in the concentrations of hepatic metabolites on administration of dihydroxyacetone or glycerol to starved rats and their relationship to the control of ketogenesis. Biochem J 114: 575-584, 1969.
    • (1969) Biochem. J. , vol.114 , pp. 575-584
    • Williamson, D.H.1    Veloso, D.2    Ellington, E.V.3    Krebs, H.A.4
  • 28
    • 9144245537 scopus 로고    scopus 로고
    • Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia
    • Sinasac DS, Moriyama M, Jalil MA, et al. Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol Cell Biol 24: 527-536, 2004.
    • (2004) Mol. Cell Biol. , vol.24 , pp. 527-536
    • Sinasac, D.S.1    Moriyama, M.2    Jalil, M.A.3
  • 29
    • 17744394665 scopus 로고    scopus 로고
    • Investigation of the metabolic characterization using citrin-knockout mice. The effect of pyruvate
    • Presented at the Tokyo, March 20, (Abstract in Japanese)
    • Moriyama M. Investigation of the metabolic characterization using citrin-knockout mice. The effect of pyruvate. Presented at the Second annual meeting of adult-onset type II citrullinemia, Tokyo, March 20, 2004, p 11 (Abstract in Japanese).
    • (2004) Second Annual Meeting of Adult-onset Type II Citrullinemia , pp. 11
    • Moriyama, M.1
  • 30
    • 0017718052 scopus 로고
    • Glycerol induced haemolysis of mammalian erythrocytes and inhibition of the lysis by fructose
    • (in Japanese)
    • Arakawa M, Kondo T, Mitsui H, Suzuki S, Shiba M. Glycerol induced haemolysis of mammalian erythrocytes and inhibition of the lysis by fructose. Nippon Yakurigaku Zasshi 73: 541-547, 1977 (in Japanese).
    • (1977) Nippon Yakurigaku Zasshi , vol.73 , pp. 541-547
    • Arakawa, M.1    Kondo, T.2    Mitsui, H.3    Suzuki, S.4    Shiba, M.5
  • 31
    • 0348113943 scopus 로고
    • Intravenous administration of hypertonic glycerol solution in neurologic diseases: II. Clinical evaluation of 10% (W/V) glycerol, 5% (W/V) fructose saline solution (CGA30)
    • Gotoh F, Tazaki Y, Fukuuchi Y, et al. Intravenous administration of hypertonic glycerol solution in neurologic diseases: II. Clinical evaluation of 10% (W/V) glycerol, 5% (W/V) fructose saline solution (CGA30). Jpn J Clin Exp Med 55: 2327-2335, 1978.
    • (1978) Jpn. J. Clin. Exp. Med. , vol.55 , pp. 2327-2335
    • Gotoh, F.1    Tazaki, Y.2    Fukuuchi, Y.3
  • 32
    • 0035062328 scopus 로고    scopus 로고
    • Cerebral hyperemia and nitric oxide synthase in rats with ammonia-induced brain edema
    • Larsen FS, Gottstein J, Blei AT. Cerebral hyperemia and nitric oxide synthase in rats with ammonia-induced brain edema. J Hepatol 34: 548-554, 2001.
    • (2001) J. Hepatol. , vol.34 , pp. 548-554
    • Larsen, F.S.1    Gottstein, J.2    Blei, A.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.