메뉴 건너뛰기




Volumn 29, Issue 2, 1998, Pages 59-71

Cerebrospinal fluid investigations for neurometabolic disorders

Author keywords

Biogenic amines; Cerebrospinal fluid; Epileptic encephalopathies; Folinic acid; GABA; Neurometabolic disorders

Indexed keywords

4 AMINOBUTYRIC ACID; BIOGENIC AMINE; FOLIC ACID; GLUCOSE; GLUTARYL COENZYME A DEHYDROGENASE; IMMUNOGLOBULIN; LACTIC ACID; PROTEIN; PYRUVIC ACID;

EID: 0031972016     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973538     Document Type: Review
Times cited : (54)

References (59)
  • 2
    • 0029165456 scopus 로고
    • Parkinsonian-like locomotor impairment in mice lacking dopamine D2 receptors
    • Balk, J.-H., Picetti, R., Saiardi, A., Thiriet, G., Dierich, A., Depaulis, A., et al. Parkinsonian-like locomotor impairment in mice lacking dopamine D2 receptors. Nature 377, 424-428 (1995).
    • (1995) Nature , vol.377 , pp. 424-428
    • Balk, J.-H.1    Picetti, R.2    Saiardi, A.3    Thiriet, G.4    Dierich, A.5    Depaulis, A.6
  • 4
    • 0025124497 scopus 로고
    • Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin
    • Barshop, B. A., Wolff, J., Nyhan, W. L., Yu, A., Prodanos, C., Jones, G., et al. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am. J. Med. Genet. 35, 222-228 (1990).
    • (1990) Am. J. Med. Genet. , vol.35 , pp. 222-228
    • Barshop, B.A.1    Wolff, J.2    Nyhan, W.L.3    Yu, A.4    Prodanos, C.5    Jones, G.6
  • 5
    • 0016404247 scopus 로고
    • A new molecular defect in phenylketonuria
    • Bartholomé, K. A new molecular defect in phenylketonuria. Lancet II, 1580 (1974).
    • (1974) Lancet , vol.2 , pp. 1580
    • Bartholomé, K.1
  • 6
    • 0028535646 scopus 로고
    • A nonsense mutation in the α4 subunit of the nicotinergic acetylcholine receptor (CHRNA4) cosegrates with 20q-linked benign neonatal familial convulsions (EBN1)
    • Beck, C., Moulard, B., Steinlein, O., Guipponi, M., Vallee, L., Montpied, P., et al. A nonsense mutation in the α4 subunit of the nicotinergic acetylcholine receptor (CHRNA4) cosegrates with 20q-linked benign neonatal familial convulsions (EBN1). Neurobiol. Disease 1, 95-99 (1994).
    • (1994) Neurobiol. Disease , vol.1 , pp. 95-99
    • Beck, C.1    Moulard, B.2    Steinlein, O.3    Guipponi, M.4    Vallee, L.5    Montpied, P.6
  • 10
    • 7144223640 scopus 로고    scopus 로고
    • Dihydropteridine reductase deficiency localized to the central nervous system
    • in press
    • Blau, N., Renneberg, A., Hyland, K. Dihydropteridine reductase deficiency localized to the central nervous system. J. Inherit. Metabol. Dis. 21, in press (1998).
    • (1998) J. Inherit. Metabol. Dis. , vol.21
    • Blau, N.1    Renneberg, A.2    Hyland, K.3
  • 11
    • 0023838498 scopus 로고
    • "Cerebral" lactic acidosis: Defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
    • Brown, G. K., Haan, E. A., Kirby, D. M., Scholem, R. D., Wraith, J. E., Rogers, J. G., et al. "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur. J. Pediatr. 147, 10-14 (1988).
    • (1988) Eur. J. Pediatr. , vol.147 , pp. 10-14
    • Brown, G.K.1    Haan, E.A.2    Kirby, D.M.3    Scholem, R.D.4    Wraith, J.E.5    Rogers, J.G.6
  • 12
    • 0027442475 scopus 로고
    • Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A
    • Brunner, H. G., Nelen, M., Breakefield, X. O., Ropers, H. H., van Oost, B. A. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262, 578-580 (1993).
    • (1993) Science , vol.262 , pp. 578-580
    • Brunner, H.G.1    Nelen, M.2    Breakefield, X.O.3    Ropers, H.H.4    Van Oost, B.A.5
  • 13
    • 0029690198 scopus 로고    scopus 로고
    • Urea cycle disorders: Diagnosis, pathophysiology, and treatment
    • Mosby-Year Book, Inc.
    • Brusilow, S. W., Maestri, N. E. Urea cycle disorders: diagnosis, pathophysiology, and treatment. In: Advances in Pediatrics. Mosby-Year Book, Inc. 127-170 (1996).
    • (1996) Advances in Pediatrics , pp. 127-170
    • Brusilow, S.W.1    Maestri, N.E.2
  • 14
    • 7144246323 scopus 로고
    • An infant with clinical features, a metabolic profile and response to treatment suggestive of tyrosine hydroxylase deficiency
    • Edinburgh, UK
    • Clayton, P. T., Heales, S. J. R., Brand, M., Clelland, J., Surtees, R. J. An infant with clinical features, a metabolic profile and response to treatment suggestive of tyrosine hydroxylase deficiency. In: SSIEM, Proceedings of the 32nd Annual Symposium. Edinburgh, UK. 1994.
    • (1994) SSIEM, Proceedings of the 32nd Annual Symposium
    • Clayton, P.T.1    Heales, S.J.R.2    Brand, M.3    Clelland, J.4    Surtees, R.J.5
  • 15
    • 0029011145 scopus 로고
    • Glucose transporter protein deficiency: An emerging syndrome with therapeutic implications
    • De Vivo, D., Garcia-Alvarez, M., Ronen, G., Trifiletti, R. Glucose transporter protein deficiency: an emerging syndrome with therapeutic implications. Int. Pediatr. 10, 51-56 (1995).
    • (1995) Int. Pediatr. , vol.10 , pp. 51-56
    • De Vivo, D.1    Garcia-Alvarez, M.2    Ronen, G.3    Trifiletti, R.4
  • 16
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hyopglycorrhachia, seizures, and developmental delay
    • De Vivo, D., Trifiletti, R., Jacobson, R., Ronen, G., Behmand, R., Harik, S. Defective glucose transport across the blood-brain barrier as a cause of persistent hyopglycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 325, 703-709 (1991).
    • (1991) N. Engl. J. Med. , vol.325 , pp. 703-709
    • De Vivo, D.1    Trifiletti, R.2    Jacobson, R.3    Ronen, G.4    Behmand, R.5    Harik, S.6
  • 17
    • 0027325718 scopus 로고
    • Tetrahydrobiopterin deficiencies: Lessons from the compilation of 200 patients
    • Dhondt, J.-L. Tetrahydrobiopterin deficiencies: Lessons from the compilation of 200 patients. Dev. Brain Dysfunction 6, 141-157 (1993).
    • (1993) Dev. Brain Dysfunction , vol.6 , pp. 141-157
    • Dhondt, J.-L.1
  • 18
    • 0026683048 scopus 로고
    • Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
    • Dubowitz, L. M. S., Bouza, H., Hird, M. F., Jaeken, J. Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet 340, 80-81 (1992).
    • (1992) Lancet , vol.340 , pp. 80-81
    • Dubowitz, L.M.S.1    Bouza, H.2    Hird, M.F.3    Jaeken, J.4
  • 22
    • 0029893709 scopus 로고    scopus 로고
    • Localized proton magnetic resonance spectroscopy of cerebral metabolites
    • Frahm, J., Hanefeld, F. Localized proton magnetic resonance spectroscopy of cerebral metabolites. Neuropediatrics 27, 64-69 (1997).
    • (1997) Neuropediatrics , vol.27 , pp. 64-69
    • Frahm, J.1    Hanefeld, F.2
  • 23
    • 0024391865 scopus 로고
    • Reference values for amino acids in cerebrospinal fluid of children using ion-exchange chromatography with fluorimetric detection
    • Gerrits, G. P. J. M., Trijbels, J. M. F., Monnens, L. A. H., Gabreëls, F. J. M., de Abreu, R. A., Theeuwes, A. G., et al. Reference values for amino acids in cerebrospinal fluid of children using ion-exchange chromatography with fluorimetric detection. Clin. Chim. Acta 182, 271-280 (1989).
    • (1989) Clin. Chim. Acta , vol.182 , pp. 271-280
    • Gerrits, G.P.J.M.1    Trijbels, J.M.F.2    Monnens, L.A.H.3    Gabreëls, F.J.M.4    De Abreu, R.A.5    Theeuwes, A.G.6
  • 24
    • 0031887260 scopus 로고    scopus 로고
    • 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
    • Gibson, K. M., Hoffmann, G. F., Hodson, A. K., Bottiglieri, T., Jakobs, C. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 29, 14-22 (1998).
    • (1998) Neuropediatrics , vol.29 , pp. 14-22
    • Gibson, K.M.1    Hoffmann, G.F.2    Hodson, A.K.3    Bottiglieri, T.4    Jakobs, C.5
  • 25
    • 0030071106 scopus 로고    scopus 로고
    • Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter
    • Giros, B., Jaber, M., R. J. S, Wightman, R. M., Caron, M. G. Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter. Nature 379, 606-612 (1996).
    • (1996) Nature , vol.379 , pp. 606-612
    • Giros, B.1    Jaber, M.2    R., J.S.3    Wightman, R.M.4    Caron, M.G.5
  • 29
    • 7144242504 scopus 로고    scopus 로고
    • Störung der dopaminergen Signalverarbeitung als Ursache einer neonatalen epileptischen Enzephalopathie und eines frühkindlichen Parkinsonismus
    • Hoffmann, G. F., Assmann, B., Bräutigam, C., Höffken, H., Zschocke, J., Wevers, R. Störung der dopaminergen Signalverarbeitung als Ursache einer neonatalen epileptischen Enzephalopathie und eines frühkindlichen Parkinsonismus. Monatsschr. Kinderh. 145, 1008 (1997).
    • (1997) Monatsschr. Kinderh. , vol.145 , pp. 1008
    • Hoffmann, G.F.1    Assmann, B.2    Bräutigam, C.3    Höffken, H.4    Zschocke, J.5    Wevers, R.6
  • 30
    • 0026785903 scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency
    • Hyland, K., Surtees, R. A. H., Rodeck, C., Clayton, P. T. Aromatic L-amino acid decarboxylase deficiency. Neurology 42, 1980-1988 (1992).
    • (1992) Neurology , vol.42 , pp. 1980-1988
    • Hyland, K.1    Surtees, R.A.H.2    Rodeck, C.3    Clayton, P.T.4
  • 31
    • 0027156904 scopus 로고
    • Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population
    • Hyland, K., Surtees, R. A. H., Heales, S. J. R., Bowron, A., Howells, D. W., Smith, I. Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr. Res. 34, 10-14 (1993).
    • (1993) Pediatr. Res. , vol.34 , pp. 10-14
    • Hyland, K.1    Surtees, R.A.H.2    Heales, S.J.R.3    Bowron, A.4    Howells, D.W.5    Smith, I.6
  • 34
    • 0030898773 scopus 로고    scopus 로고
    • Oral phenylalanine load as a diagnostic test for dopa-responsive dystonia: A possible diagnostic test
    • Hyland, K., Fryburg, J. S., Wilson, W. G., Bebin, E. M., Arnold, L. A., Gunasekera, R. S., et al. Oral phenylalanine load as a diagnostic test for dopa-responsive dystonia: a possible diagnostic test. Neurology 48, 1290-1297 (1997).
    • (1997) Neurology , vol.48 , pp. 1290-1297
    • Hyland, K.1    Fryburg, J.S.2    Wilson, W.G.3    Bebin, E.M.4    Arnold, L.A.5    Gunasekera, R.S.6
  • 35
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genetics 8, 236-242 (1994).
    • (1994) Nature Genetics , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3    Seki, N.4    Hori, T.5    Segawa, M.6
  • 36
    • 0021673420 scopus 로고
    • Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neurotransmitter metabolism
    • Jaeken, J., Casaer, P., Cock, P. d., Corbeel, L., Eeckels, R., Eggermont, E., et al. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics 15, 165-169 (1984).
    • (1984) Neuropediatrics , vol.15 , pp. 165-169
    • Jaeken, J.1    Casaer, P.2    Cock, P.D.3    Corbeel, L.4    Eeckels, R.5    Eggermont, E.6
  • 38
    • 0031290369 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoconjugate syndromes: A new chapter of neuropaediatrics
    • Jaeken, J., Casaer, P. Carbohydrate-deficient glycoconjugate syndromes: a new chapter of neuropaediatrics. Eur. J. Paediatr. Neurol. 1, 61-66 (1997).
    • (1997) Eur. J. Paediatr. Neurol. , vol.1 , pp. 61-66
    • Jaeken, J.1    Casaer, P.2
  • 39
    • 0019463313 scopus 로고
    • Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities: The probability of a new inborn error of metabolism
    • Jakobs, C., Bojasch, M., Mönch, E., Rating, D., Siemes, H., Hanefeld, F. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities: the probability of a new inborn error of metabolism. Clin. Chim. Acta 111, 169-178 (1981).
    • (1981) Clin. Chim. Acta , vol.111 , pp. 169-178
    • Jakobs, C.1    Bojasch, M.2    Mönch, E.3    Rating, D.4    Siemes, H.5    Hanefeld, F.6
  • 44
    • 0020536719 scopus 로고
    • Homocarnosinosis: Lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine
    • Lenney, J. P., Peppers, S. C., Kucera, C. M., Sjaastad, O. Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine. Clin. Chim. Acta 132, 157-165 (1983).
    • (1983) Clin. Chim. Acta , vol.132 , pp. 157-165
    • Lenney, J.P.1    Peppers, S.C.2    Kucera, C.M.3    Sjaastad, O.4
  • 45
    • 0028816765 scopus 로고
    • A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
    • Lüdecke, B., Dworniczak, B., Bartholomé, K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 93, 123-125 (1995).
    • (1995) Hum. Genet. , vol.93 , pp. 123-125
    • Lüdecke, B.1    Dworniczak, B.2    Bartholomé, K.3
  • 46
    • 0028849335 scopus 로고
    • Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency
    • Merinero, B., Pérez-Cerdá, C., Font, L. M., Garcia, M. J., Aparicio, M., Lorenzo, G., et al. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 26, 238-242 (1995).
    • (1995) Neuropediatrics , vol.26 , pp. 238-242
    • Merinero, B.1    Pérez-Cerdá, C.2    Font, L.M.3    Garcia, M.J.4    Aparicio, M.5    Lorenzo, G.6
  • 49
    • 0025124542 scopus 로고
    • Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
    • Nygaard, T. G., Trugman, J. M., Fahn, Y. J. G. S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 40, 66-69 (1990).
    • (1990) Neurology , vol.40 , pp. 66-69
    • Nygaard, T.G.1    Trugman, J.M.2    Fahn, Y.J.G.S.3
  • 50
    • 0000547499 scopus 로고
    • Clinical phenotypes: Diagnosis/Algorithms
    • Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (Eds.). New York, McGraw-Hill
    • Saudubray, J. M., Charpentier, C. Clinical phenotypes: Diagnosis/Algorithms. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (Eds.). Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill. 327-400 (1995).
    • (1995) Metabolic and Molecular Bases of Inherited Disease , pp. 327-400
    • Saudubray, J.M.1    Charpentier, C.2
  • 51
    • 0031457381 scopus 로고    scopus 로고
    • Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
    • Schulze, A., Hess, T., Wevers, R., Mayatepek, E., Bachert, P., Marescau, B., et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J. Pediatrics 131, 626-631 (1997).
    • (1997) J. Pediatrics , vol.131 , pp. 626-631
    • Schulze, A.1    Hess, T.2    Wevers, R.3    Mayatepek, E.4    Bachert, P.5    Marescau, B.6
  • 52
    • 7144265117 scopus 로고
    • Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • Shiang, R., Ryan, S., Zhu, Y.-Z., Hahn, A., O'Connell, P., Wasmuth, J. J. Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genetics 8, 136-140 (1993).
    • (1993) Nature Genetics , vol.8 , pp. 136-140
    • Shiang, R.1    Ryan, S.2    Zhu, Y.-Z.3    Hahn, A.4    O'Connell, P.5    Wasmuth, J.J.6
  • 53
    • 0025945945 scopus 로고
    • Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency
    • Stabler, S. P., Allen, R. H., Barrett, R. E., Savage, D. G., Lindenbaum, J. Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency. Neurology 41, 1627-1632 (1991).
    • (1991) Neurology , vol.41 , pp. 1627-1632
    • Stabler, S.P.1    Allen, R.H.2    Barrett, R.E.3    Savage, D.G.4    Lindenbaum, J.5
  • 55
    • 0025155128 scopus 로고
    • Cerebrospinal fluid concentrations of S-adenosylmethionine, methionine and 5-methyltetrahydrofolate in a reference population: Cerebrospinal fluid S-adenosylmethionin declines with age in humans
    • Surtees, R., Hyland, K. Cerebrospinal fluid concentrations of S-adenosylmethionine, methionine and 5-methyltetrahydrofolate in a reference population: cerebrospinal fluid S-adenosylmethionin declines with age in humans. Biochem. Med. Metab. Biol. 44, 192-199 (1990).
    • (1990) Biochem. Med. Metab. Biol. , vol.44 , pp. 192-199
    • Surtees, R.1    Hyland, K.2
  • 56
    • 0029146619 scopus 로고
    • Correlation of severity and outcome with plasma stenol levels in variants of the Smith-Lemli-Opitz syndrome
    • Tint, G. S., Salen, G., Batta, A. K., Shefer, A., Irons, M., Elias, E. R., et al. Correlation of severity and outcome with plasma stenol levels in variants of the Smith-Lemli-Opitz syndrome. J. Pediatr 127, 82-87 (1995).
    • (1995) J. Pediatr , vol.127 , pp. 82-87
    • Tint, G.S.1    Salen, G.2    Batta, A.K.3    Shefer, A.4    Irons, M.5    Elias, E.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.