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Volumn 20, Issue 2, 1997, Pages 203-213

Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINO 2 METHYLPROPIONIC ACID; 4 AMINOBUTYRIC ACID; AMINOTRANSFERASE; BETA ALANINE; NEUROTRANSMITTER; PYRIMIDINE; PYRIMIDINE DERIVATIVE; THYMINE; URACIL;

EID: 0031005437     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005356806329     Document Type: Conference Paper
Times cited : (108)

References (46)
  • 2
    • 0021238813 scopus 로고
    • Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency
    • Bakkeren JAJM, De Abreu RA, Sengers RCA, Gabreëls FJM, Maas JM, Renier WO (1984) Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency. Clin Chim Acta 140: 247-256.
    • (1984) Clin Chim Acta , vol.140 , pp. 247-256
    • Bakkeren, J.A.J.M.1    De Abreu, R.A.2    Sengers, R.C.A.3    Gabreëls, F.J.M.4    Maas, J.M.5    Renier, W.O.6
  • 3
    • 0021275335 scopus 로고
    • Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism
    • Berger R, Stoker-de Vries SA, Wadman SK, et al (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 141: 227-234.
    • (1984) Clin Chim Acta , vol.141 , pp. 227-234
    • Berger, R.1    Stoker-de Vries, S.A.2    Wadman, S.K.3
  • 6
    • 8544242106 scopus 로고
    • A gene effecting the rate of pyrimidine degradation in mice
    • Dagg CP, Coleman DL, Fraser M (1964) A gene effecting the rate of pyrimidine degradation in mice. Genetics 49: 979-989.
    • (1964) Genetics , vol.49 , pp. 979-989
    • Dagg, C.P.1    Coleman, D.L.2    Fraser, M.3
  • 7
    • 0023902287 scopus 로고
    • Familial deficiency of dihydropyrimidine dehydrogenase
    • Diasio RB, Beavers TL, Carpenter JT (1988) Familial deficiency of dihydropyrimidine dehydrogenase. J Clin Invest 81: 47-51.
    • (1988) J Clin Invest , vol.81 , pp. 47-51
    • Diasio, R.B.1    Beavers, T.L.2    Carpenter, J.T.3
  • 8
    • 0029015023 scopus 로고
    • Determination of dihydropyrimidine dehydrogenase (DPD) in fibroblasts of a DPD deficient pediatric patient and family members using a polyclonal antibody to human DPD
    • Diasio RB, Van Kuilenburg ABP, Lu Z, Zhang R, Van Lenthe H, Van Gennip AH (1994) Determination of dihydropyrimidine dehydrogenase (DPD) in fibroblasts of a DPD deficient pediatric patient and family members using a polyclonal antibody to human DPD. Adv Exp Med Biol 370: 7-10.
    • (1994) Adv Exp Med Biol , vol.370 , pp. 7-10
    • Diasio, R.B.1    Van Kuilenburg, A.B.P.2    Lu, Z.3    Zhang, R.4    Van Lenthe, H.5    Van Gennip, A.H.6
  • 10
    • 0025816494 scopus 로고
    • Dihydropyrimidinuria: A new inborn error of pyrimidine metabolism
    • Duran M, Rovers P, De Bree PK, et al (1991) Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inher Metab Dis 14: 367-370.
    • (1991) J Inher Metab Dis , vol.14 , pp. 367-370
    • Duran, M.1    Rovers, P.2    De Bree, P.K.3
  • 11
    • 0023391063 scopus 로고
    • Methylmalonic semialdehyde dehydrogenase deficiency: Demonstration of defective valine and β-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts
    • Gray RG, Pollitt J, Webley J (1987) Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and β-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts. Biochem Med Metab Biol 38: 121-124.
    • (1987) Biochem Med Metab Biol , vol.38 , pp. 121-124
    • Gray, R.G.1    Pollitt, J.2    Webley, J.3
  • 12
    • 0030597343 scopus 로고    scopus 로고
    • A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution
    • Hamajima N, Matsuda K, Sakata S, Tamaki N, Sasaki M, Nonaka M (1996) A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. Gene 180: 157-163..
    • (1996) Gene , vol.180 , pp. 157-163
    • Hamajima, N.1    Matsuda, K.2    Sakata, S.3    Tamaki, N.4    Sasaki, M.5    Nonaka, M.6
  • 13
    • 0025990479 scopus 로고
    • Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency: A potentially more common pharmacogenetic syndrome
    • Harris BE, Carpenter JT, Diasio RB (1991) Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency: a potentially more common pharmacogenetic syndrome. Cancer 68: 499-501.
    • (1991) Cancer , vol.68 , pp. 499-501
    • Harris, B.E.1    Carpenter, J.T.2    Diasio, R.B.3
  • 14
    • 0345910237 scopus 로고
    • Family studies on the urinary excretion of β-aminoisobutyric acid
    • Harris H (1953) Family studies on the urinary excretion of β-aminoisobutyric acid. Ann Eugenics 18:43-49.
    • (1953) Ann Eugenics , vol.18 , pp. 43-49
    • Harris, H.1
  • 15
  • 17
    • 0026092994 scopus 로고
    • The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency
    • Jakobs C, Stellaard F, Smit LME, et al (1991) The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency. Eur J Pediatr 150: 291.
    • (1991) Eur J Pediatr , vol.150 , pp. 291
    • Jakobs, C.1    Stellaard, F.2    Smit, L.M.E.3
  • 19
    • 0014689925 scopus 로고
    • D-β-Aminoisobutyrate:pyruvate aminotransferase in mammalian liver and excretion of β-aminoisobutyrate in man
    • Kakimoto Y, Taniguchi K, Sano I (1969) D-β-Aminoisobutyrate:pyruvate aminotransferase in mammalian liver and excretion of β-aminoisobutyrate in man. J Biol Chem 244: 335-340.
    • (1969) J Biol Chem , vol.244 , pp. 335-340
    • Kakimoto, Y.1    Taniguchi, K.2    Sano, I.3
  • 20
    • 0027297227 scopus 로고
    • Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: Population characteristics, newly identified deficient patients, and clinical implication of 5-fluorouracil chemotherapy
    • Lu Z, Zhang R, Diasio RB (1994) Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication of 5-fluorouracil chemotherapy. Biochem Pharmacol 46: 945-952.
    • (1994) Biochem Pharmacol , vol.46 , pp. 945-952
    • Lu, Z.1    Zhang, R.2    Diasio, R.B.3
  • 21
    • 0028813120 scopus 로고
    • Human polymorphism in drug metabolism: Mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine-uraciluria
    • Meinsma R, Fernandez-Salguero P, Van Kuilenburg ABP, Van Gennip AH, Gonzalez FJ (1995) Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine-uraciluria. DNA Cell Biol 14: 1-6.
    • (1995) DNA Cell Biol , vol.14 , pp. 1-6
    • Meinsma, R.1    Fernandez-Salguero, P.2    Van Kuilenburg, A.B.P.3    Van Gennip, A.H.4    Gonzalez, F.J.5
  • 22
    • 0029058584 scopus 로고
    • Dihydropyrimidinuria: The first case in Japan
    • Ohba S, Kidouchi K, Sumi S, et al (1994) Dihydropyrimidinuria: the first case in Japan. Adv Exp Med Biol 370: 383-386.
    • (1994) Adv Exp Med Biol , vol.370 , pp. 383-386
    • Ohba, S.1    Kidouchi, K.2    Sumi, S.3
  • 23
    • 0022255486 scopus 로고
    • Excessive excretion of β-alanine and 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 RJ, Green A, Smith R (1985) Excessive excretion of β-alanine and 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
  • 24
    • 0000913280 scopus 로고
    • Disorders of β- and γ-amino acids in free and peptide-linked forms
    • Scriver CR, Beaudet AL, Sly S, Valle D, eds. New York: McGraw-Hill
    • Scriver CR, Gibson KM (1995) Disorders of β- and γ-amino acids in free and peptide-linked forms. In Scriver CR, Beaudet AL, Sly S, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, vol I, part 5, 1349-1368.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , vol.1 , Issue.5 PART , pp. 1349-1368
    • Scriver, C.R.1    Gibson, K.M.2
  • 25
    • 35348837709 scopus 로고
    • Hyper-β-alaninemia associated with β-aminoaciduria and γ-aminoaciduria, somnolence and seizures
    • Scriver CR, Pueschel S, Davies E (1966) Hyper-β-alaninemia associated with β-aminoaciduria and γ-aminoaciduria, somnolence and seizures. N Engl J Med 274: 635-643.
    • (1966) N Engl J Med , vol.274 , pp. 635-643
    • Scriver, C.R.1    Pueschel, S.2    Davies, E.3
  • 26
    • 0015523856 scopus 로고
    • Deficiency of β-aminoisobutyrate:pyruvate aminotransferase in the liver of genetic high excretors of D-β-aminoisobutyrate
    • Taniguchi K, Tsujio T, Kakimoto Y (1972) Deficiency of β-aminoisobutyrate:pyruvate aminotransferase in the liver of genetic high excretors of D-β-aminoisobutyrate. Biochim Biophys Acta 279: 475-480.
    • (1972) Biochim Biophys Acta , vol.279 , pp. 475-480
    • Taniguchi, K.1    Tsujio, T.2    Kakimoto, Y.3
  • 27
    • 0000077098 scopus 로고
    • Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC
    • Zweig G, Sherma J, Krstulovic AM, eds. Boca Raton, FL: CRC Press
    • Van Gennip AH (1987) Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC. In Zweig G, Sherma J, Krstulovic AM, eds. Handbook of Chromatography. Boca Raton, FL: CRC Press, vol. I, part A, 221-245.
    • (1987) Handbook of Chromatography , vol.1 , Issue.PART A , pp. 221-245
    • Van Gennip, A.H.1
  • 28
    • 0344090449 scopus 로고
    • Liquid chromatography of urinary pyrimidines for the evaluation of primary and secondary abnormalities of pyrimidine metabolism
    • Hawk GL, Champlin PB, Hutton RF, Mol C, eds. New York and Basel: Marcel Dekker, Chromatographic Science Series 18
    • Van Gennip AH, Van Bree-Blom EJ, Wadman SK, De Bree PK, Duran M, Beemer FA (1981a) Liquid chromatography of urinary pyrimidines for the evaluation of primary and secondary abnormalities of pyrimidine metabolism. In Hawk GL, Champlin PB, Hutton RF, Mol C, eds. Biological/Biomedical Applications of Liquid Chromatography III. New York and Basel: Marcel Dekker, Chromatographic Science Series 18, 285-296.
    • (1981) Biological/Biomedical Applications of Liquid Chromatography , vol.3 , pp. 285-296
    • Van Gennip, A.H.1    Van Bree-Blom, E.J.2    Wadman, S.K.3    De Bree, P.K.4    Duran, M.5    Beemer, F.A.6
  • 29
    • 0019418867 scopus 로고
    • Linear relationship between the R- and S-enantiomers of β-aminoisobutyric acid in human urine
    • Van Gennip AH, Kamerling JP, De Bree PK, Wadman SK (1981b) Linear relationship between the R- and S-enantiomers 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
  • 32
  • 33
    • 0005975490 scopus 로고
    • Application of TLC and HPTLC for the detection of aberrant purine and pyrimidine metabolism in man
    • Sherma J, Fried B, eds. New York: Marcel Dekker, Chromatographic Science Series 55
    • Van Gennip AH, Abeling NGGM, De Korte D (1990) Application of TLC and HPTLC for the detection of aberrant purine and pyrimidine metabolism in man. In Sherma J, Fried B, eds. Handbook of Thin-Layer Chromatography. New York: Marcel Dekker, Chromatographic Science Series 55, 863-906.
    • (1990) Handbook of Thin-Layer Chromatography , pp. 863-906
    • Van Gennip, A.H.1    Abeling, N.G.G.M.2    De Korte, D.3
  • 34
    • 0027462113 scopus 로고
    • Application of simple Chromatographic methods for the diagnosis of defects in pyrimidine degradation
    • Van Gennip AH, Busch S, Elzinga L, et al (1993) Application of simple Chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 39: 380-385.
    • (1993) Clin Chem , vol.39 , pp. 380-385
    • Van Gennip, A.H.1    Busch, S.2    Elzinga, L.3
  • 36
    • 0029058594 scopus 로고
    • Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria
    • Van Gennip AH, Van Lenthe H, Abeling NGGM, Bakker HD, Van Kuilenburg ABP (1995) Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria. J Inher Metab Dis 189: 185-188.
    • (1995) J Inher Metab Dis , vol.189 , pp. 185-188
    • Van Gennip, A.H.1    Van Lenthe, H.2    Abeling, N.G.G.M.3    Bakker, H.D.4    Van Kuilenburg, A.B.P.5
  • 38
    • 0031395577 scopus 로고    scopus 로고
    • Genetic metabolic disease of pyrimidine metabolism: Implications for diagnosis and treatment
    • Van Gennip AH, Abeling NGGM, Vreken P, Van Kuilenburg ABP (1997) Genetic metabolic disease of pyrimidine metabolism: implications for diagnosis and treatment. Int Pediatr 12: 39-44.
    • (1997) Int Pediatr , vol.12 , pp. 39-44
    • Van Gennip, A.H.1    Abeling, N.G.G.M.2    Vreken, P.3    Van Kuilenburg, A.B.P.4
  • 39
    • 0004845703 scopus 로고    scopus 로고
    • Inhibition of β-ureidopropionase by propionate may contribute to the neurologic complications in patients with propionic acidemia
    • abstract P86
    • Van Gennip AH, Van Lenthe H, Abeling NGGM, Scholten EG, Van Kuilenburg ABP (1996b) Inhibition of β-ureidopropionase by propionate may contribute to the neurologic complications in patients with propionic acidemia. J Inher Metab Dis 19 (supplement 1): abstract P86.
    • (1996) J Inher Metab Dis , vol.19 , Issue.1 SUPPL.
    • Van Gennip, A.H.1    Van Lenthe, H.2    Abeling, N.G.G.M.3    Scholten, E.G.4    Van Kuilenburg, A.B.P.5
  • 40
    • 0029918267 scopus 로고    scopus 로고
    • Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man
    • Van Kuilenburg ABP, Van Lenthe H, Van Gennip AH (1996a) Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man. Anticancer Res 16: 389-394.
    • (1996) Anticancer Res , vol.16 , pp. 389-394
    • Van Kuilenburg, A.B.P.1    Van Lenthe, H.2    Van Gennip, A.H.3
  • 42
    • 0029792709 scopus 로고    scopus 로고
    • A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
    • Vreken P, Van Kuilenburg ABP, Meinsma R, et al (1996a) A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inher Metab Dis 19: 645-654.
    • (1996) J Inher Metab Dis , vol.19 , pp. 645-654
    • Vreken, P.1    Van Kuilenburg, A.B.P.2    Meinsma, R.3
  • 43
    • 0344264804 scopus 로고    scopus 로고
    • Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene
    • abstract P15
    • Vreken P, Van Kuilenburg ABP, Meinsma R, Van Gennip AH (1996b) Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. J Inher Metab Dis 19 (supplement 1): abstract P15.
    • (1996) J Inher Metab Dis , vol.19 , Issue.1 SUPPL.
    • Vreken, P.1    Van Kuilenburg, A.B.P.2    Meinsma, R.3    Van Gennip, A.H.4
  • 46
    • 0028027180 scopus 로고
    • c-DNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine-uraciluria
    • Yokota H, Fernandez-Salguero P, Furuiya H, et al (1994) c-DNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine-uraciluria. J Biol Chem 269: 23192-23196.
    • (1994) J Biol Chem , vol.269 , pp. 23192-23196
    • Yokota, H.1    Fernandez-Salguero, P.2    Furuiya, H.3


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