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Volumn 379, Issue 1, 2004, Pages 119-124

New insights in dihydropyrimidine dehydrogenase deficiency: A pivotal role for β-aminoisobutyric acid?

Author keywords

alanine; aminoisobutyrate; aminobutyric acid; Dihydropyrimidine dehydrogenase; Enantiomer; Valine

Indexed keywords

CATALYSIS; METABOLISM; MOLECULAR ORIENTATION; PATHOLOGY; PLASMAS; STEREOCHEMISTRY;

EID: 1842833383     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20031463     Document Type: Article
Times cited : (52)

References (31)
  • 1
    • 0034901306 scopus 로고    scopus 로고
    • Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after the administration of 5-fluorouracil: Frequency of the common IVS14 + 1G > a mutation causing DPD deficiency
    • van Kuilenburg, A. B. P., Muller, E. W., Haasjes, J., Meinsma, R., Zoetekouw, L., Waterham, H. R., Baas, F., Richel, D. J. and van Gennip, A. H. (2001) Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after the administration of 5-fluorouracil: frequency of the common IVS14 + 1G > A mutation causing DPD deficiency. Clin. Cancer Res. 7, 1149-1153
    • (2001) Clin. Cancer Res. , vol.7 , pp. 1149-1153
    • Van Kuilenburg, A.B.P.1    Muller, E.W.2    Haasjes, J.3    Meinsma, R.4    Zoetekouw, L.5    Waterham, H.R.6    Baas, F.7    Richel, D.J.8    Van Gennip, A.H.9
  • 2
    • 12244262239 scopus 로고    scopus 로고
    • Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency
    • van Kuilenburg, A. B. P., De Abreu, R. A. and van Gennip, A. H. (2003) Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. Ann. Clin. Biochem. 1, 41-45
    • (2003) Ann. Clin. Biochem. , vol.1 , pp. 41-45
    • Van Kuilenburg, A.B.P.1    De Abreu, R.A.2    Van Gennip, A.H.3
  • 4
    • 0002122628 scopus 로고    scopus 로고
    • Disorders of β- and γ-amino acids in free and peptide-linked forms
    • Charles, R. S., Arthur, L. B., William, S. S. and David, V., eds., McGraw-Hill, New York
    • Gibson, K. M. and Jakobs, C. (2001) Disorders of β- and γ-amino acids in free and peptide-linked forms. In The Metabolic and Molecular Basis of Inherited Disease, 8th edn (Charles, R. S., Arthur, L. B., William, S. S. and David, V., eds.), pp. 2079-2105, McGraw-Hill, New York
    • (2001) The Metabolic and Molecular Basis of Inherited Disease, 8th Edn , pp. 2079-2105
    • Gibson, K.M.1    Jakobs, C.2
  • 5
    • 0027217863 scopus 로고
    • A and glycine receptors by β-alanine: Inverse modulation by progesterone and 5α-pregnan3α- ol-20-one
    • A and glycine receptors by β-alanine: inverse modulation by progesterone and 5α-pregnan3α-ol-20-one. Eur. J. Pharmacol. 246, 239-246
    • (1993) Eur. J. Pharmacol. , vol.246 , pp. 239-246
    • Wu, F.S.1    Gibbs, T.T.2    Farb, D.H.3
  • 6
    • 0028810726 scopus 로고
    • Pharmacology of the inhibitory glycine receptor: Agonist and antagonist actions of amino acids and piperidine carboxylic acid compounds
    • Schmieden, V. and Betz, H. (1995) Pharmacology of the inhibitory glycine receptor: agonist and antagonist actions of amino acids and piperidine carboxylic acid compounds. Mol. Pharmacol. 48, 919-927
    • (1995) Mol. Pharmacol. , vol.48 , pp. 919-927
    • Schmieden, V.1    Betz, H.2
  • 7
    • 0020674613 scopus 로고
    • β-Alanine uptake by mouse brain slices
    • Kontro, P. (1983) β-Alanine uptake by mouse brain slices. Neuroscience 8, 153-159
    • (1983) Neuroscience , vol.8 , pp. 153-159
    • Kontro, P.1
  • 8
    • 0022613107 scopus 로고
    • High-affinity uptake of taurine and β-alanine in primary cultures of rat astrocytes
    • Holopainen, I. and Kontro, P. (1986) High-affinity uptake of taurine and β-alanine in primary cultures of rat astrocytes. Neurochem. Res. 11, 207-215
    • (1986) Neurochem. Res. , vol.11 , pp. 207-215
    • Holopainen, I.1    Kontro, P.2
  • 10
    • 0016219062 scopus 로고
    • The absolute configuration of β-aminoisobutyric acid formed by degradation of thymine in man
    • Solem, E. (1974) The absolute configuration of β-aminoisobutyric acid formed by degradation of thymine in man. Clin. Chim. Acta 53, 183-190
    • (1974) Clin. Chim. Acta , vol.53 , pp. 183-190
    • Solem, E.1
  • 11
    • 0015951180 scopus 로고
    • The absolute configuration of β-aminoisobutyric acid in human serum and urine
    • Solem, E., Jellum, E. and Eldjarn, L. (1974) The absolute configuration of β-aminoisobutyric acid in human serum and urine. Clin. Chim. Acta 50, 393-403
    • (1974) Clin. Chim. Acta , vol.50 , pp. 393-403
    • Solem, E.1    Jellum, E.2    Eldjarn, L.3
  • 12
    • 0019418867 scopus 로고
    • Linear relationship between the R- and S-enantiomer of β-aminoisobutyric acid in human urine
    • van Gennip, A. H., Kamerling, J. P., de Bree, P. K. and Wadman, S. K. (1981) Linear relationship between the R- and S-enantiomer of β-aminoisobutyric acid in human urine. Clin. Chim. Acta 116, 261-267
    • (1981) Clin. Chim. Acta , vol.116 , pp. 261-267
    • Van Gennip, A.H.1    Kamerling, J.P.2    De Bree, P.K.3    Wadman, S.K.4
  • 14
    • 0022255486 scopus 로고
    • Excessive excretion of β-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R-and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes
    • Pollitt, R. J., Green, A. and Smith, R. (1985) Excessive excretion of β-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R-and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. J. Inher. Metab. Dis. 8, 75-79
    • (1985) J. Inher. Metab. Dis. , vol.8 , pp. 75-79
    • Pollitt, R.J.1    Green, A.2    Smith, R.3
  • 15
    • 0022004808 scopus 로고
    • Tracer studies of the interconversion of R- and S-methylmalonic semialdehydes in man
    • Manning, N. J. and Pollitt, R. J. (1985) Tracer studies of the interconversion of R- and S-methylmalonic semialdehydes in man. Biochem. J. 231, 481-484
    • (1985) Biochem. J. , vol.231 , pp. 481-484
    • Manning, N.J.1    Pollitt, R.J.2
  • 16
    • 0031737815 scopus 로고    scopus 로고
    • Methylmalonic semialdehyde dehydrogenase deficiency: Psychomotor delay and methylmalonic aciduria without metabolic decompensation
    • Roe, C. R., Struys, E., Kok, R. M., Roe, D. S., Harris, R. A. and Jakobs, C. (1998) Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation. Mol. Genet. Metab. 65, 35-43
    • (1998) Mol. Genet. Metab. , vol.65 , pp. 35-43
    • Roe, C.R.1    Struys, E.2    Kok, R.M.3    Roe, D.S.4    Harris, R.A.5    Jakobs, C.6
  • 17
    • 1842845707 scopus 로고
    • A metabolic investigation of urinary β-aminoisobutyric acid excretion in man
    • Gartler, S. M. (1959) A metabolic investigation of urinary β-aminoisobutyric acid excretion in man. Arch. Biochem. Biophys. 80, 400-409
    • (1959) Arch. Biochem. Biophys. , vol.80 , pp. 400-409
    • Gartler, S.M.1
  • 19
    • 0035812208 scopus 로고    scopus 로고
    • Simultaneous determination of F-β-alanine and β-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography
    • van Kuilenburg, A. B. P., Stroomer, A. E. M., Peters, G. J. and van Gennip, A. H. (2001) Simultaneous determination of F-β-alanine and β-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography. J. Chromatogr. B 759, 51-61
    • (2001) J. Chromatogr. B , vol.759 , pp. 51-61
    • Van Kuilenburg, A.B.P.1    Stroomer, A.E.M.2    Peters, G.J.3    Van Gennip, A.H.4
  • 21
    • 0034043718 scopus 로고    scopus 로고
    • Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency
    • van den Berg, H., Noorduyn, A., van Kuilenburg, A. B. P., Kroes, W. and de Jong, D. (2000) Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency. Leukemia 14, 769-770
    • (2000) Leukemia , vol.14 , pp. 769-770
    • Van Den Berg, H.1    Noorduyn, A.2    Van Kuilenburg, A.B.P.3    Kroes, W.4    De Jong, D.5
  • 22
    • 0344158770 scopus 로고
    • Antioxidant activity of carnosine, homocarnosine, and anserine present in muscle and brain
    • Kohen, R., Yamamoto, Y., Cundy, K. C. and Ames, B. N. (1988) Antioxidant activity of carnosine, homocarnosine, and anserine present in muscle and brain. Proc. Natl. Acad. Sci. U.S.A. 85, 3175-3179
    • (1988) Proc. Natl. Acad. Sci. U.S.A. , vol.85 , pp. 3175-3179
    • Kohen, R.1    Yamamoto, Y.2    Cundy, K.C.3    Ames, B.N.4
  • 23
    • 0025972145 scopus 로고
    • Purification and properties of human serum carnosinase
    • Jackson, M. C., Kucera, C. M. and Lenney, J. F. (1991) Purification and properties of human serum carnosinase. Clin. Chim. Acta 196, 193-206
    • (1991) Clin. Chim. Acta , vol.196 , pp. 193-206
    • Jackson, M.C.1    Kucera, C.M.2    Lenney, J.F.3
  • 24
    • 0014957684 scopus 로고
    • 5,6-Dihydrouracil: Its occurrence and metabolism in rat brain
    • Minard, F. N. and Grant, D. S. (1970) 5,6-Dihydrouracil: its occurrence and metabolism in rat brain. Biochim. Biophys. Acta 209, 255-257
    • (1970) Biochim. Biophys. Acta , vol.209 , pp. 255-257
    • Minard, F.N.1    Grant, D.S.2
  • 25
    • 0029948024 scopus 로고    scopus 로고
    • Sodium and chloride ion-dependent transport of β-alanine across the blood-brain barrier
    • Komura, J., Tamai, I., Senmaru, M., Terasaki, T., Sai, Y. and Tsuji, A. (1996) Sodium and chloride ion-dependent transport of β-alanine across the blood-brain barrier. J. Neurochem. 67, 330-335
    • (1996) J. Neurochem. , vol.67 , pp. 330-335
    • Komura, J.1    Tamai, I.2    Senmaru, M.3    Terasaki, T.4    Sai, Y.5    Tsuji, A.6
  • 26
    • 0033997412 scopus 로고    scopus 로고
    • Vasodilatory actions of the dietary peptide carnosine
    • Ririe, D. G., Roberts, P. R., Shouse, M. N. and Zaloga, G. P. (2000) Vasodilatory actions of the dietary peptide carnosine. Nutrition 16, 168-172
    • (2000) Nutrition , vol.16 , pp. 168-172
    • Ririe, D.G.1    Roberts, P.R.2    Shouse, M.N.3    Zaloga, G.P.4
  • 27
    • 0025358552 scopus 로고
    • Evaluation of interconversion between (R)- and (S)-enantiomers of β-aminoisobutyrate
    • Tamaki, N., Kaneko, M., Kikugawa, M. and Fujimoto, S. (1990) Evaluation of interconversion between (R)- and (S)-enantiomers of β-aminoisobutyrate. Biochim. Biophys. Acta 1035, 117-119
    • (1990) Biochim. Biophys. Acta , vol.1035 , pp. 117-119
    • Tamaki, N.1    Kaneko, M.2    Kikugawa, M.3    Fujimoto, S.4
  • 28
    • 0020695902 scopus 로고
    • High excretion of β-aminoisobutyric acid in patients with ketoacidosis
    • Landaas, S. and Solem, E. (1983) High excretion of β-aminoisobutyric acid in patients with ketoacidosis. Scand. J. Clin. Lab. Invest. 43, 95-97
    • (1983) Scand. J. Clin. Lab. Invest. , vol.43 , pp. 95-97
    • Landaas, S.1    Solem, E.2
  • 29
    • 0017663293 scopus 로고
    • Elevation of serum levels of β-aminoisobutyric acid in uremic patients and the toxicity of the amino acid
    • Gejyo, F., Kinoshita, Y. and Ikenaka, T. (1977) Elevation of serum levels of β-aminoisobutyric acid in uremic patients and the toxicity of the amino acid. Clin. Nephrol. 8, 520-525
    • (1977) Clin. Nephrol. , vol.8 , pp. 520-525
    • Gejyo, F.1    Kinoshita, Y.2    Ikenaka, T.3
  • 30
    • 0032868182 scopus 로고    scopus 로고
    • A novel domain of the inhibitory glycine receptor determining antagonist efficacies: Further evidence for partial agonism resulting from self-inhibition
    • Schmieden, V., Kuhse, J. and Betz, H. (1999) A novel domain of the inhibitory glycine receptor determining antagonist efficacies: further evidence for partial agonism resulting from self-inhibition. Mol. Pharmacol. 56, 464-472
    • (1999) Mol. Pharmacol. , vol.56 , pp. 464-472
    • Schmieden, V.1    Kuhse, J.2    Betz, H.3
  • 31
    • 1842856700 scopus 로고    scopus 로고
    • Dihydropyrimidine dehydrogenase deficiency and arthrogryposis multiplex congenita: Clinical improvement under substitution of β-alanine and β-aminoisobutyric acid
    • Schweitzer-Krantz, S., van Kuilenburg, A. B. P., van Gennip, A. H. and Lehnert, W. (2002) Dihydropyrimidine dehydrogenase deficiency and arthrogryposis multiplex congenita: clinical improvement under substitution of β-alanine and β-aminoisobutyric acid. J. Inhert. Metab. Dis. 25 (Suppl. 1), 155
    • (2002) J. Inhert. Metab. Dis. , vol.25 , Issue.1 SUPPL. , pp. 155
    • Schweitzer-Krantz, S.1    Van Kuilenburg, A.B.P.2    Van Gennip, A.H.3    Lehnert, W.4


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