메뉴 건너뛰기




Volumn 28, Issue 4, 1997, Pages 229-234

Metabolic stroke in carbamyl phosphate synthetase deficiency

Author keywords

Carbamyl phosphate synthethase; Stroke; Urea cycle defect

Indexed keywords

ARGININE; CARBAMATE KINASE; GLUTAMINE; LACTIC ACID; LIVER ENZYME;

EID: 0030774847     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973705     Document Type: Article
Times cited : (30)

References (42)
  • 2
    • 0016859565 scopus 로고
    • Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids
    • Batshaw, M., S. Brusilow, M. Walser: Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. N. Engl. J. Med. 292 (1975) 1085-1090
    • (1975) N. Engl. J. Med. , vol.292 , pp. 1085-1090
    • Batshaw, M.1    Brusilow, S.2    Walser, M.3
  • 3
    • 0025745095 scopus 로고
    • Neurological findings in the carbohydrate-deficient glycoprotein syndrome
    • Blennow, G., J. Jaeken, L. M. Wiklund: Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr. Scand. Suppl. 375 (1991) 14-20
    • (1991) Acta Paediatr. Scand. Suppl. , vol.375 , pp. 14-20
    • Blennow, G.1    Jaeken, J.2    Wiklund, L.M.3
  • 5
    • 0019982801 scopus 로고
    • Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts
    • Bogousslavsky, J., E. Perentes, J. P. Deruaz, F. Regli: Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts. J. Neurol. Sci. 55 (1982) 351-357
    • (1982) J. Neurol. Sci. , vol.55 , pp. 351-357
    • Bogousslavsky, J.1    Perentes, E.2    Deruaz, J.P.3    Regli, F.4
  • 6
    • 0000500492 scopus 로고
    • Spectrophotometric assay for the determination of urea
    • Ceriotti, G., L. A. Spandrio: Spectrophotometric assay for the determination of urea. Clin. Chim. Acta 8 (1963) 295-299
    • (1963) Clin. Chim. Acta , vol.8 , pp. 295-299
    • Ceriotti, G.1    Spandrio, L.A.2
  • 7
    • 0027464868 scopus 로고
    • Ornithine transcarbamylase deficiency presenting with stroke like episodes
    • Christodoulou, J., I. A. Qureshi, R. R. McInnes, J. T. R. Clarke: Ornithine transcarbamylase deficiency presenting with stroke like episodes. J. Pediatr. 122 (1993) 423-425
    • (1993) J. Pediatr. , vol.122 , pp. 423-425
    • Christodoulou, J.1    Qureshi, I.A.2    McInnes, R.R.3    Clarke, J.T.R.4
  • 9
    • 0027498888 scopus 로고
    • Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency
    • Connelly, A., J. H. Cross, D. G. Gadian, J. Y. Hunter, F. J. Kirkham, J. Y. Leonard: Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr. Res. 33 (1993) 77-81
    • (1993) Pediatr. Res. , vol.33 , pp. 77-81
    • Connelly, A.1    Cross, J.H.2    Gadian, D.G.3    Hunter, J.Y.4    Kirkham, F.J.5    Leonard, J.Y.6
  • 10
    • 0021719616 scopus 로고
    • Cerebellar hemorrhage complicating methylmalonic and propionic acidemia
    • Dave, P., R. G. Curless, L. Steinman: Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch. Neurol. 41 (1984) 1293-1296
    • (1984) Arch. Neurol. , vol.41 , pp. 1293-1296
    • Dave, P.1    Curless, R.G.2    Steinman, L.3
  • 12
    • 0027409118 scopus 로고
    • Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
    • Felber, S. R., W. Sperl, A. Chemelli, Ch. Murr, U. Wendel: Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Ann. Neurol. 33 (1993) 396-401
    • (1993) Ann. Neurol. , vol.33 , pp. 396-401
    • Felber, S.R.1    Sperl, W.2    Chemelli, A.3    Murr, Ch.4    Wendel, U.5
  • 13
    • 0022619794 scopus 로고
    • Ornithine transcarbamylase deficiency: Neuropathologic changes acquired in utero
    • Filloux, F., J. J. Townsend, C. Leonard: Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero. J. Pediatr. 108 (1986) 942
    • (1986) J. Pediatr. , vol.108 , pp. 942
    • Filloux, F.1    Townsend, J.J.2    Leonard, C.3
  • 14
    • 0019511941 scopus 로고
    • Cerebellar hemorrhage complicating isovaleric acidemia: A case report
    • Fischer, A. Q., V. R. Challa, B. K. Burton, W. T. McLean: Cerebellar hemorrhage complicating isovaleric acidemia: a case report. Neurology 31 (1981) 746-748
    • (1981) Neurology , vol.31 , pp. 746-748
    • Fischer, A.Q.1    Challa, V.R.2    Burton, B.K.3    McLean, W.T.4
  • 15
    • 0024493728 scopus 로고
    • Localized high resolution proton NMR spectroscopy using stimulated echoes: Initial applications to the human brain in vivo
    • Frahm, J., H. Bruhn, M. L. Gyngell, K. D. Merboldt, W. Hänicke, R. Sauter: Localized high resolution proton NMR spectroscopy using stimulated echoes: Initial applications to the human brain in vivo. Magn. Reson. Med. 9 (1989) 79-93
    • (1989) Magn. Reson. Med. , vol.9 , pp. 79-93
    • Frahm, J.1    Bruhn, H.2    Gyngell, M.L.3    Merboldt, K.D.4    Hänicke, W.5    Sauter, R.6
  • 16
    • 0020083364 scopus 로고
    • Pediatric victims of unexplained stroke and their families: Familial lipid and lipoprotein abnormalities
    • Glueck, C. J., S. R. Daniels, S. Bates, C. Benton, T. Tracy, J. L. H. C. Third: Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities. Pediatrics 69 (1982) 308-316
    • (1982) Pediatrics , vol.69 , pp. 308-316
    • Glueck, C.J.1    Daniels, S.R.2    Bates, S.3    Benton, C.4    Tracy, T.5    Third, J.L.H.C.6
  • 17
    • 0020754821 scopus 로고
    • Glutaric acidemia as a cause of striatal necrosis in childhood
    • Goodman, S. I., M. D. Norenberg: Glutaric acidemia as a cause of striatal necrosis in childhood. Ann. Neurol. 13 (1983) 582-583
    • (1983) Ann. Neurol. , vol.13 , pp. 582-583
    • Goodman, S.I.1    Norenberg, M.D.2
  • 19
    • 0028052980 scopus 로고
    • Stroke in Fabry's disease
    • Grewal, R. P.: Stroke in Fabry's disease. J. Neurol. 241 (1994) 153-156
    • (1994) J. Neurol. , vol.241 , pp. 153-156
    • Grewal, R.P.1
  • 20
    • 0024246645 scopus 로고
    • Acute extrapyramidal syndrome in methylmalonic acidemia: "Metabolic stroke" involving the globus pallidus
    • Heidenreich, R., M. Natowicz, B. E. Hainline, P. Berman, R.I. Kelley, R. E. Hillman, G. T. Berry: Acute extrapyramidal syndrome in methylmalonic acidemia: "Metabolic stroke" involving the globus pallidus. J. Pediatr. 113 (1988) 1022-1027
    • (1988) J. Pediatr. , vol.113 , pp. 1022-1027
    • Heidenreich, R.1    Natowicz, M.2    Hainline, B.E.3    Berman, P.4    Kelley, R.I.5    Hillman, R.E.6    Berry, G.T.7
  • 21
    • 0028107258 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS): Current concepts
    • Hirano, M., S. G. Pavlakis: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS): current concepts. J. Child Neurol. 9 (1994) 4-13
    • (1994) J. Child Neurol. , vol.9 , pp. 4-13
    • Hirano, M.1    Pavlakis, S.G.2
  • 22
    • 0027253962 scopus 로고
    • Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-base pair deletion due to aberrant splicing
    • Hoshide, R., T. Matsuura, Y. Haraguchi, F. Endo, M. Yoshinaga, I. Matsuda: Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-base pair deletion due to aberrant splicing. J. Clin. Invest. 91 (1993) 1884-1887
    • (1993) J. Clin. Invest. , vol.91 , pp. 1884-1887
    • Hoshide, R.1    Matsuura, T.2    Haraguchi, Y.3    Endo, F.4    Yoshinaga, M.5    Matsuda, I.6
  • 24
    • 0027752796 scopus 로고
    • MELAS syndrome masquerading as herpes simplex encephalitis
    • Johns, D. R., A. G. Stein, R. Wityk: MELAS syndrome masquerading as herpes simplex encephalitis. Neurology 43 (1993) 2471-2473
    • (1993) Neurology , vol.43 , pp. 2471-2473
    • Johns, D.R.1    Stein, A.G.2    Wityk, R.3
  • 25
    • 0028206479 scopus 로고
    • Neuroradiological and neurophysiological indices for neurometabolic disorders
    • Kohlschütter, A.: Neuroradiological and neurophysiological indices for neurometabolic disorders. Eur. J. Pediatr. 153 (Suppl 1) (1994) 90-93
    • (1994) Eur. J. Pediatr. , vol.153 , Issue.1 SUPPL. , pp. 90-93
    • Kohlschütter, A.1
  • 26
    • 0027358569 scopus 로고
    • Der Schlaganfall beim Kind: Ätiologie, Differentialdiagnose, sinnvolle Diagnostik und therapeutische Möglichkeiten
    • Kotlarek, F., A. Thron, U. Weber, R. Schneider: Der Schlaganfall beim Kind: Ätiologie, Differentialdiagnose, sinnvolle Diagnostik und therapeutische Möglichkeiten. Klin. Pädiatr. 205 (1993) 332-339
    • (1993) Klin. Pädiatr. , vol.205 , pp. 332-339
    • Kotlarek, F.1    Thron, A.2    Weber, U.3    Schneider, R.4
  • 27
    • 0019120250 scopus 로고
    • Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis
    • Leibel, R. L., V. E. Shih, S. I. Goodman et al: Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 30 (1980) 1163-1168
    • (1980) Neurology , vol.30 , pp. 1163-1168
    • Leibel, R.L.1    Shih, V.E.2    Goodman, S.I.3
  • 28
    • 0022884268 scopus 로고
    • Neuropathologic changes in ornithine carbamoyl transferase deficiency
    • Leonard, J. V., M. E. Pembrey, C. A. Oley, B. N. Harding: Neuropathologic changes in ornithine carbamoyl transferase deficiency. J. Pediatr. 109 (1986) 1074
    • (1986) J. Pediatr. , vol.109 , pp. 1074
    • Leonard, J.V.1    Pembrey, M.E.2    Oley, C.A.3    Harding, B.N.4
  • 30
    • 0023688315 scopus 로고
    • A new type of mitochondrial encephalomyopathy with stroke-like episodes due to cytochrome oxidase deficiency
    • Maertens, P., R. Richardson, F. Bastian, J. P. Williams, F. Hommes: A new type of mitochondrial encephalomyopathy with stroke-like episodes due to cytochrome oxidase deficiency. J. Inherit. Metab. Dis. 11 (Suppl 2) (1988) 186-188
    • (1988) J. Inherit. Metab. Dis. , vol.11 , Issue.2 SUPPL. , pp. 186-188
    • Maertens, P.1    Richardson, R.2    Bastian, F.3    Williams, J.P.4    Hommes, F.5
  • 31
    • 0026326971 scopus 로고
    • Urea cycle defect: A case with MR and CT findings resembling infarct
    • Mamourian, A. C., A. du Plessis: Urea cycle defect: a case with MR and CT findings resembling infarct. Pediatr. Radiol. 21 (1991) 594-595
    • (1991) Pediatr. Radiol. , vol.21 , pp. 594-595
    • Mamourian, A.C.1    Du Plessis, A.2
  • 32
    • 0013770185 scopus 로고
    • Effect of azo-dye carcinogenesis on enzymes concerned with urea synthesis in rat liver
    • McLean, P., E. Reid, M. W. Gurney: Effect of azo-dye carcinogenesis on enzymes concerned with urea synthesis in rat liver. Biochem. J. 91 (1964) 464-473
    • (1964) Biochem. J. , vol.91 , pp. 464-473
    • McLean, P.1    Reid, E.2    Gurney, M.W.3
  • 33
    • 0023275907 scopus 로고
    • Mendelian etiologies of stroke
    • Natowicz, M., R. I. Kelley: Mendelian etiologies of stroke. Ann. Neurol. 22 (1987) 175-192
    • (1987) Ann. Neurol. , vol.22 , pp. 175-192
    • Natowicz, M.1    Kelley, R.I.2
  • 34
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes: A distinctive clinical syndrome
    • Pavlakis, S. G., P. C. Phillips, S. Di Mauro, D. C. de Vivo, L. P. Rowland: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes: a distinctive clinical syndrome. Ann. Neurol. 16 (1984) 481-488
    • (1984) Ann. Neurol. , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    Di Mauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 35
    • 0028035427 scopus 로고
    • Hereditary and acquired risk factors for childhood stroke
    • Riikonen, R., P. Santavuori: Hereditary and acquired risk factors for childhood stroke. Neuropediatrics 25 (1994) 227-233
    • (1994) Neuropediatrics , vol.25 , pp. 227-233
    • Riikonen, R.1    Santavuori, P.2
  • 36
    • 0017841797 scopus 로고
    • Cerebrovascular disease in infants and children. A study of incidence, clinical features and survival
    • Schoenberger, B. S., J. F. Mellinger, D. G. Schoenberger: Cerebrovascular disease in infants and children. A study of incidence, clinical features and survival. Neurology 28 (1978) 763-768
    • (1978) Neurology , vol.28 , pp. 763-768
    • Schoenberger, B.S.1    Mellinger, J.F.2    Schoenberger, D.G.3
  • 38
    • 85036489772 scopus 로고
    • Acute late-infantile manifestation with metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency (MCCD)
    • SSIEM abstr. P070
    • Steen, C., R. Baumgartner, M. Pegel, T. Suormala, W. Lehnert, M. Duran et al: Acute late-infantile manifestation with metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency (MCCD). 33rd Annual Symposium Toledo, SSIEM abstr. P070 (1995) 74
    • (1995) 33rd Annual Symposium Toledo , pp. 74
    • Steen, C.1    Baumgartner, R.2    Pegel, M.3    Suormala, T.4    Lehnert, W.5    Duran, M.6
  • 39
    • 0001939584 scopus 로고    scopus 로고
    • Pyruvate kinase and other enzymopathies of the erythrocyte
    • (C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, eds.) 7th Edition, McGrawHill Inc
    • Tanaka, K. R., D. E. Paglia: Pyruvate kinase and other enzymopathies of the erythrocyte. In: The Metabolic and Molecular Bases of Inherited Disease. (C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, eds.) 7th Edition, McGrawHill Inc, 3485-3511
    • The Metabolic and Molecular Bases of Inherited Disease , pp. 3485-3511
    • Tanaka, K.R.1    Paglia, D.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.