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Volumn 14, Issue 5, 2012, Pages 501-507

Argininosuccinate lyase deficiency

Author keywords

arginine; argininosuccinate lyase; argininosuccinic aciduria; nitric oxide; urea cycle

Indexed keywords

4 PHENYLBUTYRIC ACID; ARGININE; ARGININOSUCCINATE LYASE; BENZOIC ACID;

EID: 84861863400     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.1     Document Type: Review
Times cited : (83)

References (53)
  • 2
    • 0029690198 scopus 로고    scopus 로고
    • Urea cycle disorders: Diagnosis, pathophysiology, and therapy
    • Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 1996;43:127-170.
    • (1996) Adv Pediatr , vol.43 , pp. 127-170
    • Brusilow, S.W.1    Maestri, N.E.2
  • 4
    • 46749144467 scopus 로고    scopus 로고
    • Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    • Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network
    • Tuchman M, Lee B, Lichter-Konecki U, et al.; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 2008;94:397-402.
    • (2008) Mol Genet Metab , vol.94 , pp. 397-402
    • Tuchman, M.1    Lee, B.2    Lichter-Konecki, U.3
  • 5
    • 0000387087 scopus 로고
    • A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism
    • A llan JD, Cusworth DC, Dent CE, Wilson VK. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet 1958;1:182-187.
    • (1958) Lancet , vol.1 , pp. 182-187
    • Allan, J.D.1    Cusworth, D.C.2    Dent, C.E.3    Wilson, V.K.4
  • 6
    • 0032732091 scopus 로고    scopus 로고
    • Liver transplantation in urea cycle disorders
    • Saudubray JM, Touati G, Delonlay P, et al. Liver transplantation in urea cycle disorders. Eur J Pediatr 1999;158(suppl 2):S55-S59.
    • (1999) Eur J Pediatr , vol.158 , Issue.SUPPL. 2
    • Saudubray, J.M.1    Touati, G.2    Delonlay, P.3
  • 8
    • 70349750064 scopus 로고    scopus 로고
    • Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening
    • Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab 2009;98:273-277.
    • (2009) Mol Genet Metab , vol.98 , pp. 273-277
    • Ficicioglu, C.1    Mandell, R.2    Shih, V.E.3
  • 9
    • 77950521202 scopus 로고    scopus 로고
    • Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria
    • Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, et al. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol Genet Metab 2010;100:24-28.
    • (2010) Mol Genet Metab , vol.100 , pp. 24-28
    • Mercimek-Mahmutoglu, S.1    Moeslinger, D.2    Häberle, J.3
  • 12
    • 67651211665 scopus 로고    scopus 로고
    • Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?
    • Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab 2009;98:195-197.
    • (2009) Mol Genet Metab , vol.98 , pp. 195-197
    • Brunetti-Pierri, N.1    Erez, A.2    Shchelochkov, O.3    Craigen, W.4    Lee, B.5
  • 13
    • 33846960155 scopus 로고    scopus 로고
    • Trichorrhexis nodosa secondary to argininosuccinicaciduria
    • Fichtel JC, Richards JA, Davis LS. Trichorrhexis nodosa secondary to argininosuccinicaciduria. Pediatr Dermatol 2007;24:25-27.
    • (2007) Pediatr Dermatol , vol.24 , pp. 25-27
    • Fichtel, J.C.1    Richards, J.A.2    Davis, L.S.3
  • 14
    • 34249791195 scopus 로고    scopus 로고
    • Orotic acid excretion and arginine metabolism
    • Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr 2007;137(6 suppl 2):1656S-1661S. (Pubitemid 46855526)
    • (2007) Journal of Nutrition , vol.137 , Issue.6
    • Brosnan, M.E.1    Brosnan, J.T.2
  • 15
    • 0027247561 scopus 로고
    • Argininosuccinic aciduria: Clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines
    • G errits GP, Gabreëls FJ, Monnens LA, et al. Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Neuropediatrics 1993;24:15-18.
    • (1993) Neuropediatrics , vol.24 , pp. 15-18
    • Gerrits, G.P.1    Gabreëls, F.J.2    Monnens, L.A.3
  • 18
    • 0033785197 scopus 로고    scopus 로고
    • Intragenic complementation and the structure and function of argininosuccinate lyase
    • Yu B, Howell PL. Intragenic complementation and the structure and function of argininosuccinate lyase. Cell Mol Life Sci 2000;57:1637-1651.
    • (2000) Cell Mol Life Sci , vol.57 , pp. 1637-1651
    • Yu, B.1    Howell, P.L.2
  • 20
    • 0033596741 scopus 로고    scopus 로고
    • Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate
    • Vallée F, Turner MA, Lindley PL, Howell PL. Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate. Biochemistry 1999;38:2425-2434.
    • (1999) Biochemistry , vol.38 , pp. 2425-2434
    • Vallée, F.1    Turner, M.A.2    Lindley, P.L.3    Howell, P.L.4
  • 21
    • 0023225865 scopus 로고
    • Recruitment of enzymes as lens structural proteins
    • Wistow G, Piatigorsky J. Recruitment of enzymes as lens structural proteins. Science 1987;236:1554-1556. (Pubitemid 17087947)
    • (1987) Science , vol.236 , Issue.4808 , pp. 1554-1556
    • Wistow, G.1    Piatigorsky, J.2
  • 23
    • 0036820530 scopus 로고    scopus 로고
    • Argininosuccinate lyase (ASL) deficiency: Mutation analysis in 27 patients and a completed structure of the human ASL gene
    • DOI 10.1007/s00439-002-0793-4
    • Linnebank M, Tschiedel E, Häberle J, et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet 2002;111:350-359. (Pubitemid 36075061)
    • (2002) Human Genetics , vol.111 , Issue.4-5 , pp. 350-359
    • Linnebank, M.1    Tschiedel, E.2    Haberle, J.3    Linnebank, A.4    Willenbring, H.5    Kleijer, W.J.6    Koch, H.G.7
  • 24
    • 0036746765 scopus 로고    scopus 로고
    • Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: Prenatal and postnatal diagnosis in five unrelated families
    • Kleijer WJ, Garritsen VH, Linnebank M, et al. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis 2002;25:399-410.
    • (2002) J Inherit Metab Dis , vol.25 , pp. 399-410
    • Kleijer, W.J.1    Garritsen, V.H.2    Linnebank, M.3
  • 25
    • 31644451878 scopus 로고    scopus 로고
    • Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria
    • A l-Sayed M, Alahmed S, Alsmadi O, et al. Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis 2005;28:877-883.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 877-883
    • Al-Sayed, M.1    Alahmed, S.2    Alsmadi, O.3
  • 26
    • 0032533159 scopus 로고    scopus 로고
    • Arginine metabolism: Nitric oxide and beyond
    • Wu G, Morris SM Jr. Arginine metabolism: nitric oxide and beyond. Biochem J 1998;336 (Pt 1):1-17. (Pubitemid 28532555)
    • (1998) Biochemical Journal , vol.336 , Issue.1 , pp. 1-17
    • Wu, G.1    Morris Jr., S.M.2
  • 27
    • 0019750437 scopus 로고
    • Source and fate of circulating citrulline
    • Windmueller HG, Spaeth AE. Source and fate of circulating citrulline. Am J Physiol 1981;241:E473-E480.
    • (1981) Am J Physiol , vol.241
    • Windmueller, H.G.1    Spaeth, A.E.2
  • 28
    • 4744367468 scopus 로고    scopus 로고
    • Arginine metabolic enzymes, nitric oxide and infection
    • discussion 2853S
    • Mori M, Gotoh T. Arginine metabolic enzymes, nitric oxide and infection. J Nutr 2004;134(10 suppl):2820S-2825S; discussion 2853S.
    • (2004) J Nutr , vol.134 , Issue.10 SUPPL.
    • Mori, M.1    Gotoh, T.2
  • 29
    • 33846184121 scopus 로고    scopus 로고
    • Metabolic syndrome and urinary cGMP excretion in general population
    • DOI 10.1016/j.atherosclerosis.2006.02.032, PII S0021915006000761
    • Cui R, Iso H, Pi J, et al. Metabolic syndrome and urinary cGMP excretion in general population. Atherosclerosis 2007;190(2):423-428. (Pubitemid 46084930)
    • (2007) Atherosclerosis , vol.190 , Issue.2 , pp. 423-428
    • Cui, R.1    Iso, H.2    Pi, J.3    Kumagai, Y.4    Yamagishi, K.5    Tanigawa, T.6    Shimamoto, T.7
  • 30
    • 31744439701 scopus 로고    scopus 로고
    • Quantifying the L-arginine paradox in vivo
    • DOI 10.1016/j.mvr.2005.10.006, PII S0026286205001123
    • Vukosavljevic N, Jaron D, Barbee KA, Buerk DG. Quantifying the L-arginine paradox in vivo. Microvasc Res 2006;71:48-54. (Pubitemid 43175848)
    • (2006) Microvascular Research , vol.71 , Issue.1 , pp. 48-54
    • Vukosavljevic, N.1    Jaron, D.2    Barbee, K.A.3    Buerk, D.G.4
  • 31
    • 84856100270 scopus 로고    scopus 로고
    • Requirement of argininosuccinate lyase for systemic nitric oxide production
    • e-pub ahead of print 13 November 2011
    • Erez A, Nagamani S, Shchelochkov OA, et al. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nature Medicine 2011; e-pub ahead of print 13 November 2011.
    • (2011) Nature Medicine
    • Erez, A.1    Nagamani, S.2    Shchelochkov, O.A.3
  • 32
    • 59649120881 scopus 로고    scopus 로고
    • Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects
    • Nagasaka H, Tsukahara H, Yorifuji T, et al. Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects. Metabolism 2009;58:278-282.
    • (2009) Metabolism , vol.58 , pp. 278-282
    • Nagasaka, H.1    Tsukahara, H.2    Yorifuji, T.3
  • 33
    • 33745907851 scopus 로고    scopus 로고
    • Inefficient spin trapping of superoxide in the presence of nitric-oxide: Implications for studies on nitric-oxide synthase uncoupling
    • DOI 10.1016/j.freeradbiomed.2006.04.004, PII S0891584906002474
    • Pignitter M, Gorren AC, Nedeianu S, Schmidt K, Mayer B. Inefficient spin trapping of superoxide in the presence of nitric-oxide: implications for studies on nitric-oxide synthase uncoupling. Free Radic Biol Med 2006;41:455-463. (Pubitemid 44041054)
    • (2006) Free Radical Biology and Medicine , vol.41 , Issue.3 , pp. 455-463
    • Pignitter, M.1    Gorren, A.C.F.2    Nedeianu, S.3    Schmidt, K.4    Mayer, B.5
  • 34
    • 0026754574 scopus 로고
    • Reactive oxygen species and the central nervous system
    • Halliwell B. Reactive oxygen species and the central nervous system. J Neurochem 1992;59:1609-1623.
    • (1992) J Neurochem , vol.59 , pp. 1609-1623
    • Halliwell, B.1
  • 35
    • 0037307003 scopus 로고    scopus 로고
    • Inhibition of arginine synthesis by urea: A mechanism for arginine deficiency in renal failure which leads to increased hydroxyl radical generation
    • A oyagi K. Inhibition of arginine synthesis by urea: a mechanism for arginine deficiency in renal failure which leads to increased hydroxyl radical generation. Mol Cell Biochem 2003;244:11-15.
    • (2003) Mol Cell Biochem , vol.244 , pp. 11-15
    • Aoyagi, K.1
  • 36
    • 0035130256 scopus 로고    scopus 로고
    • Role of nitric oxide in the synthesis of guanidinosuccinic acid, an activator of the N-methyl-D-aspartate receptor
    • A oyagi K, Shahrzad S, Iida S, et al. Role of nitric oxide in the synthesis of guanidinosuccinic acid, an activator of the N-methyl-D-aspartate receptor. Kidney Int (suppl) 2001;78:S93-S96.
    • (2001) Kidney Int (Suppl) , vol.78
    • Aoyagi, K.1    Shahrzad, S.2    Iida, S.3
  • 37
    • 0026478010 scopus 로고
    • Convulsive action and toxicity of uremic guanidino compounds: Behavioral assessment and relation to brain concentration in adult mice
    • D'Hooge R, Pei YQ, Marescau B, De Deyn PP. Convulsive action and toxicity of uremic guanidino compounds: behavioral assessment and relation to brain concentration in adult mice. J Neurol Sci 1992;112:96-105.
    • (1992) J Neurol Sci , vol.112 , pp. 96-105
    • D'Hooge, R.1    Pei, Y.Q.2    Marescau, B.3    De Deyn, P.P.4
  • 38
    • 51349141861 scopus 로고    scopus 로고
    • Hereditary urea cycle diseases in Finland
    • Keskinen P, Siitonen A, Salo M. Hereditary urea cycle diseases in Finland. Acta Paediatr 2008;97:1412-1419.
    • (2008) Acta Paediatr , vol.97 , pp. 1412-1419
    • Keskinen, P.1    Siitonen, A.2    Salo, M.3
  • 39
    • 2642557350 scopus 로고    scopus 로고
    • Genetic approach to prenatal diagnosis in urea cycle defects
    • DOI 10.1002/pd.884
    • Häberle J, Koch HG. Genetic approach to prenatal diagnosis in urea cycle defects. Prenat Diagn 2004;24:378-383. (Pubitemid 38724865)
    • (2004) Prenatal Diagnosis , vol.24 , Issue.5 , pp. 378-383
    • Haberle, J.1    Koch, H.G.2
  • 40
    • 33645401496 scopus 로고    scopus 로고
    • Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: Evidence for a transmission ratio distortion in citrullinemia
    • Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Häberle J, Huijmans JG. Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. Prenat Diagn 2006;26:242-247.
    • (2006) Prenat Diagn , vol.26 , pp. 242-247
    • Kleijer, W.J.1    Garritsen, V.H.2    Van Der Sterre, M.L.3    Berning, C.4    Häberle, J.5    Huijmans, J.G.6
  • 41
    • 0028899881 scopus 로고
    • Prenatal diagnosis of the urea cycle diseases: A survey of the European cases
    • Kamoun P, Fensom AH, Shin YS, et al. Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. Am J Med Genet 1995;55:247-250.
    • (1995) Am J Med Genet , vol.55 , pp. 247-250
    • Kamoun, P.1    Fensom, A.H.2    Shin, Y.S.3
  • 42
    • 0029894239 scopus 로고    scopus 로고
    • Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia
    • Mandell R, Packman S, Laframboise R, et al. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagn 1996;16:419-424.
    • (1996) Prenat Diagn , vol.16 , pp. 419-424
    • Mandell, R.1    Packman, S.2    Laframboise, R.3
  • 44
    • 85205863093 scopus 로고    scopus 로고
    • Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
    • e-pub ahead of print 11 June
    • Engel K, Vuissoz JM, Eggimann S, et al. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis 2011. e-pub ahead of print 11 June 2011.
    • (2011) J Inherit Metab Dis , vol.2011
    • Engel, K.1    Vuissoz, J.M.2    Eggimann, S.3
  • 45
    • 70350374243 scopus 로고    scopus 로고
    • Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations
    • Trevisson E, Burlina A, Doimo M, et al. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J Biol Chem 2009;284:28926-28934.
    • (2009) J Biol Chem , vol.284 , pp. 28926-28934
    • Trevisson, E.1    Burlina, A.2    Doimo, M.3
  • 46
    • 0035139898 scopus 로고    scopus 로고
    • Consensus statement from a conference for the management of patients with urea cycle disorders
    • Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr 2001;138(1 suppl):S1-S5.
    • (2001) J Pediatr , vol.138 , Issue.1 SUPPL.
  • 47
    • 0025886852 scopus 로고
    • Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
    • Kvedar JC, Baden HP, Baden LA, Shih VE, Kolodny EH. Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. Am J Med Genet 1991;40:211-213.
    • (1991) Am J Med Genet , vol.40 , pp. 211-213
    • Kvedar, J.C.1    Baden, H.P.2    Baden, L.A.3    Shih, V.E.4    Kolodny, E.H.5
  • 48
    • 0013772485 scopus 로고
    • A familial study of a human enzyme defect, argininosuccinic aciduria
    • Coryell ME, Hall WK, Thevaos TG, et al. A familial study of a human enzyme defect, argininosuccinic aciduria. Biochem Biophys Res Commun 1964;14:307-312.
    • (1964) Biochem Biophys Res Commun , vol.14 , pp. 307-312
    • Coryell, M.E.1    Hall, W.K.2    Thevaos, T.G.3
  • 49
    • 0035145334 scopus 로고    scopus 로고
    • Alternative pathway therapy for urea cycle disorders: Twenty years later
    • discussion S54
    • Batshaw ML, MacArthur RB, Tuchman M. Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 2001;138(1 suppl):S46-54; discussion S54.
    • (2001) J Pediatr , vol.138 , Issue.1 SUPPL.
    • Batshaw, M.L.1    MacArthur, R.B.2    Tuchman, M.3
  • 50
    • 0035143585 scopus 로고    scopus 로고
    • Long-term correction of urea cycle disorders
    • DOI 10.1067/mpd.2001.111838
    • Lee B, Goss J. Long-term correction of urea cycle disorders. J Pediatr 2001;138(1 suppl):S62-S71. (Pubitemid 32099505)
    • (2001) Journal of Pediatrics , vol.138 , Issue.1 SUPPL.
    • Lee, B.1    Goss, J.2


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