메뉴 건너뛰기




Volumn 67, Issue 2, 2010, Pages 148-153

Inherited metabolic disorders and stroke part 2: Homocystinuria, organic acidurias, and urea cycle disorders

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBOCYTIC AGENT; ARGININE; ASCORBIC ACID; BENZOIC ACID; BETAINE; CARBOXYLIC ACID; CARNITINE; CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTINE; PHENYLACETATE SODIUM; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; RIBOFLAVIN; UNCLASSIFIED DRUG; UREA; VITAMIN B COMPLEX;

EID: 76149087434     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2009.333     Document Type: Review
Times cited : (110)

References (42)
  • 1
    • 74949124717 scopus 로고    scopus 로고
    • Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol. 2010;67(1):19-24.
    • Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol. 2010;67(1):19-24.
  • 2
    • 0032915831 scopus 로고    scopus 로고
    • Cystathionine β-synthase mutations in homocystinuria
    • Kraus JP, Janosík M, Kozich V, et al. Cystathionine β-synthase mutations in homocystinuria. Hum Mutat. 1999;13(5):362-375.
    • (1999) Hum Mutat , vol.13 , Issue.5 , pp. 362-375
    • Kraus, J.P.1    Janosík, M.2    Kozich, V.3
  • 3
    • 76149088815 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man. Homocystinuria, Accessed March 27, 2009
    • Online Mendelian Inheritance in Man. Homocystinuria. http://www.ncbi.nlm. nih.gov/entrez/dispomim.cgi?id=236200. Accessed March 27, 2009.
  • 4
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathionine β-synthase deficiency
    • Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet. 1985;37(1):1-31.
    • (1985) Am J Hum Genet , vol.37 , Issue.1 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.2    Levy, H.L.3
  • 5
    • 28344446460 scopus 로고    scopus 로고
    • Mechanisms of homocysteine-induced atherothrombosis
    • Lentz SR. Mechanisms of homocysteine-induced atherothrombosis. J Thromb Haemost. 2005;3(8):1646-1654.
    • (2005) J Thromb Haemost , vol.3 , Issue.8 , pp. 1646-1654
    • Lentz, S.R.1
  • 6
    • 34047159358 scopus 로고    scopus 로고
    • Acute hyperhomocysteinemia induces microvascular and macrovascular endothelial dysfunction
    • Abahji TN, Nill L, Ide N, Keller C, Hoffmann U, Weiss N. Acute hyperhomocysteinemia induces microvascular and macrovascular endothelial dysfunction. Arch Med Res. 2007;38(4):411-416.
    • (2007) Arch Med Res , vol.38 , Issue.4 , pp. 411-416
    • Abahji, T.N.1    Nill, L.2    Ide, N.3    Keller, C.4    Hoffmann, U.5    Weiss, N.6
  • 7
    • 1842411860 scopus 로고    scopus 로고
    • Homocyst(e)ine decreases bioavailable nitric oxide by a mechanism involving glutathione peroxidase
    • Upchurch GR Jr, Welch GN, Fabian AJ, et al. Homocyst(e)ine decreases bioavailable nitric oxide by a mechanism involving glutathione peroxidase. J Biol Chem. 1997;272(27):17012-17017.
    • (1997) J Biol Chem , vol.272 , Issue.27 , pp. 17012-17017
    • Upchurch Jr, G.R.1    Welch, G.N.2    Fabian, A.J.3
  • 8
    • 33749329880 scopus 로고    scopus 로고
    • Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia
    • Dayal S, Wilson KM, Leo L, Arning E, Bottiglieri T, Lentz SR. Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia. Blood. 2006;108(7):2237-2243.
    • (2006) Blood , vol.108 , Issue.7 , pp. 2237-2243
    • Dayal, S.1    Wilson, K.M.2    Leo, L.3    Arning, E.4    Bottiglieri, T.5    Lentz, S.R.6
  • 9
    • 0037469194 scopus 로고    scopus 로고
    • Stroke in young patients with hyperhomocysteinemia due to cystathionine β-synthase deficiency
    • Kelly PJ, Furie KL, Kistler JP, et al. Stroke in young patients with hyperhomocysteinemia due to cystathionine β-synthase deficiency. Neurology. 2003;60(2):275-279.
    • (2003) Neurology , vol.60 , Issue.2 , pp. 275-279
    • Kelly, P.J.1    Furie, K.L.2    Kistler, J.P.3
  • 10
    • 49849087671 scopus 로고    scopus 로고
    • Adult-onset homocystinuria arteriopathy mimics fibromuscular dysplasia
    • Accessed March 8, 2009
    • Chauveheid MP, Lidove O, Papo T, Laissy JP. Adult-onset homocystinuria arteriopathy mimics fibromuscular dysplasia. Am J Med. 2008;121(9):e5-e6. Accessed March 8, 2009.
    • Am J Med. 2008 , vol.121 , Issue.9
    • Chauveheid, M.P.1    Lidove, O.2    Papo, T.3    Laissy, J.P.4
  • 12
    • 0035570015 scopus 로고    scopus 로고
    • Vascular outcome in patients with homocystinuria due to cystathionine β-synthase deficiency treated chronically: A multicenter observational study
    • Yap S, Boers GH, Wilcken B, et al. Vascular outcome in patients with homocystinuria due to cystathionine β-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol. 2001;21(12):2080-2085.
    • (2001) Arterioscler Thromb Vasc Biol , vol.21 , Issue.12 , pp. 2080-2085
    • Yap, S.1    Boers, G.H.2    Wilcken, B.3
  • 13
    • 1342309318 scopus 로고    scopus 로고
    • Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke, myocardial infarction, and death: The Vitamin Intervention for Stroke Prevention (VISP) randomized controlled trial
    • Toole JF, Malinow MR, Chambless LE, et al. Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke, myocardial infarction, and death: the Vitamin Intervention for Stroke Prevention (VISP) randomized controlled trial. JAMA. 2004;291(5):565-575.
    • (2004) JAMA , vol.291 , Issue.5 , pp. 565-575
    • Toole, J.F.1    Malinow, M.R.2    Chambless, L.E.3
  • 15
    • 0021719616 scopus 로고
    • Cerebellar hemorrhage complicating methylmalonic and propionic acidemia
    • Dave P, Curless RG, Steinman L. Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol. 1984;41(12):1293-1296.
    • (1984) Arch Neurol , vol.41 , Issue.12 , pp. 1293-1296
    • Dave, P.1    Curless, R.G.2    Steinman, L.3
  • 16
    • 0019511941 scopus 로고
    • Cerebellar hemorrhage complicating isovaleric acidemia: A case report
    • Fischer AQ, Challa VR, Burton BK, McLean WT. Cerebellar hemorrhage complicating isovaleric acidemia: a case report. Neurology. 1981;31(6):746-748.
    • (1981) Neurology , vol.31 , Issue.6 , pp. 746-748
    • Fischer, A.Q.1    Challa, V.R.2    Burton, B.K.3    McLean, W.T.4
  • 17
    • 0028870138 scopus 로고
    • Acute basal ganglia infarction in propionic acidemia
    • Haas RH, Marsden DL, Capistrano-Estrada S, et al. Acute basal ganglia infarction in propionic acidemia. J Child Neurol. 1995;10(1):18-22.
    • (1995) J Child Neurol , vol.10 , Issue.1 , pp. 18-22
    • Haas, R.H.1    Marsden, D.L.2    Capistrano-Estrada, S.3
  • 18
    • 0034037526 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia
    • Chemelli AP, Schocke M, Sperl W, Trieb T, Aichner F, Felber S. Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging. 2000;11(6):596-600.
    • (2000) J Magn Reson Imaging , vol.11 , Issue.6 , pp. 596-600
    • Chemelli, A.P.1    Schocke, M.2    Sperl, W.3    Trieb, T.4    Aichner, F.5    Felber, S.6
  • 19
    • 0035033273 scopus 로고    scopus 로고
    • Multi-slice proton spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: Report of two cases and review of the literature
    • Trinh BC, Melhem ER, Barker PB. Multi-slice proton spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. AJNR Am J Neuroradiol. 2001;22(5):831-833.
    • (2001) AJNR Am J Neuroradiol , vol.22 , Issue.5 , pp. 831-833
    • Trinh, B.C.1    Melhem, E.R.2    Barker, P.B.3
  • 20
    • 0029787140 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: Clinical and biochemical considerations
    • Bergman AJ, Van der Knaap MS, Smeitink JA, et al. Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatr Res. 1996;40(3):404-409.
    • (1996) Pediatr Res , vol.40 , Issue.3 , pp. 404-409
    • Bergman, A.J.1    Van der Knaap, M.S.2    Smeitink, J.A.3
  • 21
    • 76149086226 scopus 로고    scopus 로고
    • Zschocke J, Hoffmann GF. Vademecum Metabolicum: Manual of Metabolic Paediatrics. 2nd ed. Stuttgart, Germany: Schattauer Verlag; 2004.
    • Zschocke J, Hoffmann GF. Vademecum Metabolicum: Manual of Metabolic Paediatrics. 2nd ed. Stuttgart, Germany: Schattauer Verlag; 2004.
  • 22
    • 0029913156 scopus 로고    scopus 로고
    • Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines
    • Shigematsu Y, Hata I, Nakai A, et al. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Pediatr Res. 1996;39(4, pt 1):680-684.
    • (1996) Pediatr Res , vol.39 , Issue.4 and PART 1 , pp. 680-684
    • Shigematsu, Y.1    Hata, I.2    Nakai, A.3
  • 23
    • 0019978490 scopus 로고
    • Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack
    • Shigematsu Y, Sudo M, Momoi T, Inoue Y, Suzuki Y, Kameyama J. Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack. Pediatr Res. 1982;16(9):771-775.
    • (1982) Pediatr Res , vol.16 , Issue.9 , pp. 771-775
    • Shigematsu, Y.1    Sudo, M.2    Momoi, T.3    Inoue, Y.4    Suzuki, Y.5    Kameyama, J.6
  • 25
    • 34548128809 scopus 로고    scopus 로고
    • Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
    • Kölker S, Garbade SF, Boy N, et al. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res. 2007;62(3):357-363.
    • (2007) Pediatr Res , vol.62 , Issue.3 , pp. 357-363
    • Kölker, S.1    Garbade, S.F.2    Boy, N.3
  • 26
    • 70350569911 scopus 로고    scopus 로고
    • Brain injury in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging
    • Pérez-Dueñas B, De La Osa A, Capdevila A, et al. Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging. Eur J Paediatr Neurol. 2009;13(6):534-540.
    • (2009) Eur J Paediatr Neurol , vol.13 , Issue.6 , pp. 534-540
    • Pérez-Dueñas, B.1    De La Osa, A.2    Capdevila, A.3
  • 27
    • 0346095333 scopus 로고    scopus 로고
    • Glutaric aciduria type I: Value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis
    • Elster AW. Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis. J Comput Assist Tomogr. 2004;28(1):98-100.
    • (2004) J Comput Assist Tomogr , vol.28 , Issue.1 , pp. 98-100
    • Elster, A.W.1
  • 28
    • 33646700043 scopus 로고    scopus 로고
    • Endothelial effects of 3-hydroxyglutaric acid: Implications for glutaric aciduria type I
    • Mühlhausen C, Ott N, Chalajour F, et al. Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I. Pediatr Res. 2006;59(2):196-202.
    • (2006) Pediatr Res , vol.59 , Issue.2 , pp. 196-202
    • Mühlhausen, C.1    Ott, N.2    Chalajour, F.3
  • 29
    • 12844261741 scopus 로고    scopus 로고
    • The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I
    • Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab. 2005;84(2):137-143.
    • (2005) Mol Genet Metab , vol.84 , Issue.2 , pp. 137-143
    • Tortorelli, S.1    Hahn, S.H.2    Cowan, T.M.3    Brewster, T.G.4    Rinaldo, P.5    Matern, D.6
  • 30
    • 33846452131 scopus 로고    scopus 로고
    • Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
    • Kölker S, Christensen E, Leonard JV, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis. 2007;30(1):5-22.
    • (2007) J Inherit Metab Dis , vol.30 , Issue.1 , pp. 5-22
    • Kölker, S.1    Christensen, E.2    Leonard, J.V.3
  • 33
    • 0028297789 scopus 로고
    • Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency)
    • Stöckler S, Radner H, Karpf EF, Hauer A, Ebner F. Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency). J Pediatr. 1994;124(4):601-604.
    • (1994) J Pediatr , vol.124 , Issue.4 , pp. 601-604
    • Stöckler, S.1    Radner, H.2    Karpf, E.F.3    Hauer, A.4    Ebner, F.5
  • 34
    • 0028024334 scopus 로고
    • Stroke, hemiparesis and deficient mitochondrial β-oxidation
    • Vallée L, Fontaine M, Nuyts JP, et al. Stroke, hemiparesis and deficient mitochondrial β-oxidation. Eur J Pediatr. 1994;153(8):598-603.
    • (1994) Eur J Pediatr , vol.153 , Issue.8 , pp. 598-603
    • Vallée, L.1    Fontaine, M.2    Nuyts, J.P.3
  • 35
    • 33644662109 scopus 로고    scopus 로고
    • Glutaric aciduria types I and II
    • Gordon N. Glutaric aciduria types I and II. Brain Dev. 2006;28(3):136-140.
    • (2006) Brain Dev , vol.28 , Issue.3 , pp. 136-140
    • Gordon, N.1
  • 36
    • 51349111824 scopus 로고    scopus 로고
    • Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
    • Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 2008;97(10):1420-1425.
    • (2008) Acta Paediatr , vol.97 , Issue.10 , pp. 1420-1425
    • Summar, M.L.1    Dobbelaere, D.2    Brusilow, S.3    Lee, B.4
  • 37
    • 0037389612 scopus 로고    scopus 로고
    • Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: Metabolic stroke involving the caudate and putamen without metabolic decompensation
    • Keegan CE, Martin DM, Quint DJ, Gorski JL. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Pediatr. 2003;162(4):259-263.
    • (2003) Eur J Pediatr , vol.162 , Issue.4 , pp. 259-263
    • Keegan, C.E.1    Martin, D.M.2    Quint, D.J.3    Gorski, J.L.4
  • 38
    • 0030774847 scopus 로고    scopus 로고
    • Metabolic stroke in carbamyl phosphate synthetase deficiency
    • Sperl W, Felber S, Skladal D, Wermuth B. Metabolic stroke in carbamyl phosphate synthetase deficiency. Neuropediatrics. 1997;28(4):229-234.
    • (1997) Neuropediatrics , vol.28 , Issue.4 , pp. 229-234
    • Sperl, W.1    Felber, S.2    Skladal, D.3    Wermuth, B.4
  • 39
    • 33645668947 scopus 로고    scopus 로고
    • Two cases of citrullinaemia presenting with stroke
    • Choi JH, Kim H, Yoo HW. Two cases of citrullinaemia presenting with stroke. J Inherit Metab Dis. 2006;29(1):182-183.
    • (2006) J Inherit Metab Dis , vol.29 , Issue.1 , pp. 182-183
    • Choi, J.H.1    Kim, H.2    Yoo, H.W.3
  • 40
    • 0027464868 scopus 로고
    • Ornithine transcarbamylase deficiency presenting with strokelike episodes
    • Christodoulou J, Qureshi IA, McInnes RR, Clarke JT. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr. 1993;122(3):423-425.
    • (1993) J Pediatr , vol.122 , Issue.3 , pp. 423-425
    • Christodoulou, J.1    Qureshi, I.A.2    McInnes, R.R.3    Clarke, J.T.4
  • 41
    • 0035139916 scopus 로고    scopus 로고
    • Laboratory evaluation of urea cycle disorders
    • Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr. 2001;138(1)(suppl):S21-S29.
    • (2001) J Pediatr , vol.138 , Issue.1 SUPPL.
    • Steiner, R.D.1    Cederbaum, S.D.2
  • 42
    • 16644386782 scopus 로고    scopus 로고
    • Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine trans-carbamylase deficiency
    • Accessed November 9, 2009
    • McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine trans-carbamylase deficiency. Pediatrics. 2004;114(4):e523-e526. Accessed November 9, 2009.
    • Pediatrics. 2004 , vol.114 , Issue.4
    • McBride, K.L.1    Miller, G.2    Carter, S.3    Karpen, S.4    Goss, J.5    Lee, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.