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Volumn 48, Issue 5, 1997, Pages 1290-1297

Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; DOPA; NEOPTERIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN; TYROSINE;

EID: 0030898773     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.5.1290     Document Type: Article
Times cited : (94)

References (43)
  • 1
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233.
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3
  • 2
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard TG. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993; 60:577-585.
    • (1993) Adv Neurol , vol.60 , pp. 577-585
    • Nygaard, T.G.1
  • 5
    • 0024563633 scopus 로고
    • Dopa responsive dystonia: A treatable condition misdiagnosed as cerebral palsy
    • Boyd K, Patterson V. Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy. BMJ 1989;298: 1019-1020.
    • (1989) BMJ , vol.298 , pp. 1019-1020
    • Boyd, K.1    Patterson, V.2
  • 6
    • 0025062380 scopus 로고
    • The dystonias
    • Marsden CD, Quinn NP. The dystonias. BMJ 1990;300:139-144.
    • (1990) BMJ , vol.300 , pp. 139-144
    • Marsden, C.D.1    Quinn, N.P.2
  • 8
    • 0027377709 scopus 로고
    • Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
    • Nygaard TG, Wilhelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 1993;5:386-391.
    • (1993) Nat Genet , vol.5 , pp. 386-391
    • Nygaard, T.G.1    Wilhelmsen, K.C.2    Risch, N.J.3
  • 9
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi EI, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8: 236-242.
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.I.3
  • 10
    • 9044252959 scopus 로고
    • Tyrosine hydroxylase, the initial step in norepinephrine biosynthesis
    • Nagatsu T, Levitt M, Udenfriend S. Tyrosine hydroxylase, the initial step in norepinephrine biosynthesis. J Biol Chem 1964; 238:2910-2917.
    • (1964) J Biol Chem , vol.238 , pp. 2910-2917
    • Nagatsu, T.1    Levitt, M.2    Udenfriend, S.3
  • 11
    • 70449306145 scopus 로고
    • Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine
    • Kaufman S. Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1959;234: 2677-2682.
    • (1959) J Biol Chem , vol.234 , pp. 2677-2682
    • Kaufman, S.1
  • 13
    • 0027426054 scopus 로고
    • Tetrahydrobiopterin deficiency and an international database of patients
    • Ayling JE, Nair MG, Baugh CM, eds. New York: Plenum Press
    • Blau N, Dhondt JL. Tetrahydrobiopterin deficiency and an international database of patients. In: Ayling JE, Nair MG, Baugh CM, eds. Advances in experimental medicine and biology. New York: Plenum Press, 1993;338:205-261.
    • (1993) Advances in Experimental Medicine and Biology , vol.338 , pp. 205-261
    • Blau, N.1    Dhondt, J.L.2
  • 15
    • 0342615965 scopus 로고
    • Peripheral biopterin defect in dopa-responsive dystonia demonstrated with a phenylalanine load test
    • Trugman JM, Hyland K, Fryburg JS, et al. Peripheral biopterin defect in dopa-responsive dystonia demonstrated with a phenylalanine load test. Mov Disord 1995;10:698.
    • (1995) Mov Disord , vol.10 , pp. 698
    • Trugman, J.M.1    Hyland, K.2    Fryburg, J.S.3
  • 16
    • 85036446448 scopus 로고    scopus 로고
    • Abnormal phenylalanine metabolism in dopa-responsive dystonia: A possible diagnostic test
    • Hyland K, Trugman JM, Rost-Ruffner E, et al. Abnormal phenylalanine metabolism in dopa-responsive dystonia: a possible diagnostic test. Neurology 1996;46:A273.
    • (1996) Neurology , vol.46
    • Hyland, K.1    Trugman, J.M.2    Rost-Ruffner, E.3
  • 17
    • 0342615964 scopus 로고
    • An isocratic high-performance liquid chromatographic system for the investigation of abnormalities of neurotransmitter amine, biopterin, and aromatic amino acid metabolism in cerebrospinal fluid using sequential coulometric electrochemical and fluorescence detection
    • Joseph MH, Fillenz M, Macdonald IA, Marsden CA, eds. Ellis Howard UK
    • Hyland K, Smith I, Howells DW. An isocratic high-performance liquid chromatographic system for the investigation of abnormalities of neurotransmitter amine, biopterin, and aromatic amino acid metabolism in cerebrospinal fluid using sequential coulometric electrochemical and fluorescence detection. In: Joseph MH, Fillenz M, Macdonald IA, Marsden CA, eds. Monitoring neurotransmitter release during behaviour. Ellis Howard UK, 1986;233-238.
    • (1986) Monitoring Neurotransmitter Release during Behaviour , pp. 233-238
    • Hyland, K.1    Smith, I.2    Howells, D.W.3
  • 18
    • 0018868814 scopus 로고
    • Analysis of reduced forms of biopterin in biological tissues and fluids
    • Fukushima T, Nixon JC. Analysis of reduced forms of biopterin in biological tissues and fluids. Anal Biochem 1980;102: 176-188.
    • (1980) Anal Biochem , vol.102 , pp. 176-188
    • Fukushima, T.1    Nixon, J.C.2
  • 19
    • 0027251094 scopus 로고
    • Feedback regulation mechanisms for control of GTP cyclohydrolase I activity
    • Harada T, Kagamiyama H, Hatakeyama K. Feedback regulation mechanisms for control of GTP cyclohydrolase I activity. Science 1993;260:1507-1510.
    • (1993) Science , vol.260 , pp. 1507-1510
    • Harada, T.1    Kagamiyama, H.2    Hatakeyama, K.3
  • 21
    • 0030056511 scopus 로고    scopus 로고
    • Tetrahydrobiopterin and biogenic amine metabolism in the HPH-1 mouse
    • Hyland K, Gunasekera RS, Engle T, Arnold LA. Tetrahydrobiopterin and biogenic amine metabolism in the HPH-1 mouse. J Neurochem 1996;67:752-759.
    • (1996) J Neurochem , vol.67 , pp. 752-759
    • Hyland, K.1    Gunasekera, R.S.2    Engle, T.3    Arnold, L.A.4
  • 22
    • 0023838889 scopus 로고
    • Hyperphenylalaninaemia in the hph-1 mouse mutant
    • McDonald JD, Bode VC. Hyperphenylalaninaemia in the hph-1 mouse mutant. Pediatr Res 1988;23:63-67.
    • (1988) Pediatr Res , vol.23 , pp. 63-67
    • McDonald, J.D.1    Bode, V.C.2
  • 23
    • 0028300346 scopus 로고
    • Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia
    • Takahashi H, Levine RA, Galloway MP, Snow BJ, Calne DB, Nygaard TG. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol 1994;35:354-356.
    • (1994) Ann Neurol , vol.35 , pp. 354-356
    • Takahashi, H.1    Levine, R.A.2    Galloway, M.P.3    Snow, B.J.4    Calne, D.B.5    Nygaard, T.G.6
  • 24
    • 0018287445 scopus 로고
    • Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia
    • Williams A, Eldridge R, Levine R, Lovenberg W, Paulson G. Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia. Lancet 1979;2:410-411.
    • (1979) Lancet , vol.2 , pp. 410-411
    • Williams, A.1    Eldridge, R.2    Levine, R.3    Lovenberg, W.4    Paulson, G.5
  • 25
    • 0022527119 scopus 로고
    • Tetrahydrobiopterin in dystonia: Identification of abnormal metabolism and therapeutic trials
    • Le Witt PA, Miller LP, Levine RA, et al. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. Neurology. 1986;36:760-764.
    • (1986) Neurology , vol.36 , pp. 760-764
    • Le Witt, P.A.1    Miller, L.P.2    Levine, R.A.3
  • 27
    • 0021264311 scopus 로고
    • Immune response-associated production of neopterin. Release from macrophages primarily under control of interferon-gamma
    • Huber C, Batchelor JR, Fuchs D, et al. Immune response-associated production of neopterin. Release from macrophages primarily under control of interferon-gamma. J Exp Med 1984;160:310-316.
    • (1984) J Exp Med , vol.160 , pp. 310-316
    • Huber, C.1    Batchelor, J.R.2    Fuchs, D.3
  • 28
    • 0021344054 scopus 로고
    • GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine and serotonin deficiencies and muscular hypotonia
    • Niederwieser A, Blau N, Wang M, Joller P, Atar M, Cardesa-Garcia J. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine and serotonin deficiencies and muscular hypotonia. Eur J Pediatr 1984;141:208-214.
    • (1984) Eur J Pediatr , vol.141 , pp. 208-214
    • Niederwieser, A.1    Blau, N.2    Wang, M.3    Joller, P.4    Atar, M.5    Cardesa-Garcia, J.6
  • 30
    • 0014429847 scopus 로고
    • Daily rhythms in the concentrations of various amino acids in human plasma
    • Wurtman RJ, Rose CM, Chou C, Larin FF. Daily rhythms in the concentrations of various amino acids in human plasma. N Engl J Med 1968;279:171-178.
    • (1968) N Engl J Med , vol.279 , pp. 171-178
    • Wurtman, R.J.1    Rose, C.M.2    Chou, C.3    Larin, F.F.4
  • 31
    • 0020061435 scopus 로고
    • Influence of age and sex on the kinetics of intravenously administered L-phenylalanine
    • Jagenburg R, Regardh CG, Rodjer S. Influence of age and sex on the kinetics of intravenously administered L-phenylalanine. Clin Chem 1982;28:204-206.
    • (1982) Clin Chem , vol.28 , pp. 204-206
    • Jagenburg, R.1    Regardh, C.G.2    Rodjer, S.3
  • 32
    • 0014814427 scopus 로고
    • Reduction of plasma tyrosine by oral contraceptives and oestrogens: A possible consequence of tyrosine aminotransferase induction
    • Rose DP, Cramp DG. Reduction of plasma tyrosine by oral contraceptives and oestrogens: A possible consequence of tyrosine aminotransferase induction. Clin Chim Acta 1970;29:49-53.
    • (1970) Clin Chim Acta , vol.29 , pp. 49-53
    • Rose, D.P.1    Cramp, D.G.2
  • 33
    • 0016678531 scopus 로고
    • Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio
    • Westwood A, Raine DN. Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio. J Med Genet 1975;12:327-333.
    • (1975) J Med Genet , vol.12 , pp. 327-333
    • Westwood, A.1    Raine, D.N.2
  • 34
    • 0014545471 scopus 로고
    • Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis
    • Rampini S, Anders PW, Curtius HCh, Marthaler TH. Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis. Pediatr Res 1969;3: 287-297.
    • (1969) Pediatr Res , vol.3 , pp. 287-297
    • Rampini, S.1    Anders, P.W.2    Curtius, H.Ch.3    Marthaler, T.H.4
  • 35
    • 0027476692 scopus 로고
    • Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninemia
    • Saraiva JM, Seakins JWT, Smith I. Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninemia. J Inherit Metab Dis 1993;16:105-109.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 105-109
    • Saraiva, J.M.1    Seakins, J.W.T.2    Smith, I.3
  • 36
    • 0017180252 scopus 로고
    • Bioptenn derivatives in normal and phenylketonuric patients after oral load of L-phenylalanine, L-tyrosine and L-tryptophan
    • Leeming RJ, Blair A, Green A, Raine DN. Bioptenn derivatives in normal and phenylketonuric patients after oral load of L-phenylalanine, L-tyrosine and L-tryptophan. Arch Dis Child 1976;51:771-777.
    • (1976) Arch Dis Child , vol.51 , pp. 771-777
    • Leeming, R.J.1    Blair, A.2    Green, A.3    Raine, D.N.4
  • 37
    • 33751022933 scopus 로고
    • Relationships between phenylalanine and biopterin metabolism
    • Wachter H, Curtius HCh, Pfleiderer W, eds. Berlin: Walter de Gruyter
    • Dhondt JL, Farriaux JP. Relationships between phenylalanine and biopterin metabolism. In: Wachter H, Curtius HCh, Pfleiderer W, eds. Biochemical and clinical aspects of pteridines. Berlin: Walter de Gruyter, 1982;1:318-328.
    • (1982) Biochemical and Clinical Aspects of Pteridines , vol.1 , pp. 318-328
    • Dhondt, J.L.1    Farriaux, J.P.2
  • 39
    • 0027243978 scopus 로고
    • Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin
    • Alös T, Bel Y, Cabello ML, et al. Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin. J Inherit Metab Dis 1993;16:457-464.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 457-464
    • Alös, T.1    Bel, Y.2    Cabello, M.L.3
  • 40
    • 0018305320 scopus 로고
    • Malignant hyperphenylalaninemia - Clinical features, biochemical findings and experience with administration of biopterins
    • Danks DM, Schlesinger P, Firgaira F, et al. Malignant hyperphenylalaninemia - clinical features, biochemical findings and experience with administration of biopterins. Pediatr Res 1979;13:1150-1155.
    • (1979) Pediatr Res , vol.13 , pp. 1150-1155
    • Danks, D.M.1    Schlesinger, P.2    Firgaira, F.3
  • 41
    • 0023096605 scopus 로고
    • Dihydrobiopterin synthesis defect: An adult with diurnal fluctuations of symptoms
    • Tanaka K, Yoneda M, Nakajima T, Miyatake T, Owada I. Dihydrobiopterin synthesis defect: an adult with diurnal fluctuations of symptoms. Neurology 1987;37:519-522.
    • (1987) Neurology , vol.37 , pp. 519-522
    • Tanaka, K.1    Yoneda, M.2    Nakajima, T.3    Miyatake, T.4    Owada, I.5
  • 42
    • 0029049876 scopus 로고
    • Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog PM, Flatmark T, Mallet J, Lüdecke B, Bartholomé K. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995:4;1209-1212.
    • (1995) Hum Mol Genet , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3    Lüdecke, B.4    Bartholomé, K.5
  • 43
    • 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 1995;93:123-125.
    • (1995) Hum Genet , vol.93 , pp. 123-125
    • Lüdecke, B.1    Dworniczak, B.2    Bartholomé, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.