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Volumn 32, Issue 3, 2009, Pages 403-411

Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia

Author keywords

[No Author keywords available]

Indexed keywords

2 KETOBUTYRIC ACID; 2 METHYLACONITIC ACID; 2 METHYLISOCITRIC ACID; 3 METHYLMALIC ACID; 3 METHYLOXALOACETIC ACID; CITRATE SYNTHASE; ISOCITRATE DEHYDROGENASE; MALATE DEHYDROGENASE; MESACONIC ACID; METHYLCITRIC ACID; METHYLSUCCINIC ACID; TRICARBOXYLIC ACID; UNCLASSIFIED DRUG;

EID: 67349268807     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1071-6     Document Type: Conference Paper
Times cited : (6)

References (27)
  • 1
    • 0017377138 scopus 로고
    • Identification of D-threo-alpha-methylisocitrate as stereochemically specific substrate for bovine heart aconitase and inhibitor of TPN-linked isocitrate dehydrogenase
    • Beach RL, Aogaichi T, Plaut GW (1977) Identification of D-threo-alpha-methylisocitrate as stereochemically specific substrate for bovine heart aconitase and inhibitor of TPN-linked isocitrate dehydrogenase. J Biol Chem 252: 2702-2709.
    • (1977) J Biol Chem , vol.252 , pp. 2702-2709
    • Beach, R.L.1    Aogaichi, T.2    Plaut, G.W.3
  • 3
    • 0021710439 scopus 로고
    • Urinary excretion of L-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: Evidence for secondary insufficiency of L-carnitine
    • doi: 10.1203/00006450-198412000-00021
    • Chalmers RA, Roe CR, Stacey TE, Hoppel CL (1984) Urinary excretion of L-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: Evidence for secondary insufficiency of L-carnitine. Pediatr Res 18: 1325-1328. doi: 10.1203/00006450-198412000-00021.
    • (1984) Pediatr Res , vol.18 , pp. 1325-1328
    • Chalmers, R.A.1    Roe, C.R.2    Stacey, T.E.3    Hoppel, C.L.4
  • 4
    • 0020062339 scopus 로고
    • Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia
    • Coude FX, Ogier H, Grimber G, et al (1982) Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. Pediatrics 69: 115-117.
    • (1982) Pediatrics , vol.69 , pp. 115-117
    • Coude, F.X.1    Ogier, H.2    Grimber, G.3
  • 6
    • 0020620596 scopus 로고
    • Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions
    • doi: 10.1016/0009-8981(83)90186-9
    • Dorland L, Duran M, Wadman SK, Niederwieser A, Bruinvis L, Ketting D (1983) Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions. Clin Chim Acta 134: 77-83. doi: 10.1016/0009-8981(83)90186-9.
    • (1983) Clin Chim Acta , vol.134 , pp. 77-83
    • Dorland, L.1    Duran, M.2    Wadman, S.K.3    Niederwieser, A.4    Bruinvis, L.5    Ketting, D.6
  • 7
    • 0013926302 scopus 로고
    • Alpha-methyl-cis-aconitic acid, cis -aconitase substrate. I. Synthesis
    • doi: 10.1021/bi00871a023
    • Gawron O, Mahajan KP (1966) Alpha-methyl- cis -aconitic acid, cis -aconitase substrate. I. Synthesis. Biochemistry 5: 2335-2342. doi: 10.1021/bi00871a023.
    • (1966) Biochemistry , vol.5 , pp. 2335-2342
    • Gawron, O.1    Mahajan, K.P.2
  • 8
    • 0019419908 scopus 로고
    • Determination of the absolute configuration of some biologically important urinary 2-hydroxydicarboxylic acids by capillary gas-liquid chromatography
    • Kamerling JP, Duran M, Gerwig GJ, et al (1981) Determination of the absolute configuration of some biologically important urinary 2-hydroxydicarboxylic acids by capillary gas-liquid chromatography. J Chromatogr 222: 276-283.
    • (1981) J Chromatogr , vol.222 , pp. 276-283
    • Kamerling, J.P.1    Duran, M.2    Gerwig, G.J.3
  • 9
    • 0019427673 scopus 로고
    • 3-Hydroxyisoheptanoic acid: A new metabolite in isovaleric acidemia
    • doi: 10.1016/0009-8981(81)90445-9
    • Lehnert W (1981a) 3-Hydroxyisoheptanoic acid: A new metabolite in isovaleric acidemia. Clin Chim Acta 113: 101-103. doi: 10.1016/ 0009-8981(81)90445-9.
    • (1981) Clin Chim Acta , vol.113 , pp. 101-103
    • Lehnert, W.1
  • 10
    • 0019795743 scopus 로고
    • Excretion of N -isovalerylglutamic acid in isovaleric acidemia
    • doi: 10.1016/0009-8981(81)90030-9
    • Lehnert W (1981b) Excretion of N -isovalerylglutamic acid in isovaleric acidemia. Clin Chim Acta 116: 249-252. doi: 10.1016/0009-8981(81)90030-9.
    • (1981) Clin Chim Acta , vol.116 , pp. 249-252
    • Lehnert, W.1
  • 11
    • 0020512352 scopus 로고
    • N-Isovalerylalanine and N-isovalerylsarcosine: Two new minor metabolites in isovaleric acidemia
    • doi: 10.1016/0009-8981(83)90198-5
    • Lehnert W (1983) N -Isovalerylalanine and N -isovalerylsarcosine: Two new minor metabolites in isovaleric acidemia. Clin Chim Acta 134: 207-212. doi: 10.1016/0009-8981(83)90198-5.
    • (1983) Clin Chim Acta , vol.134 , pp. 207-212
    • Lehnert, W.1
  • 12
    • 0019422735 scopus 로고
    • 4-hydroxyisovaleric acid: A new metabolite in isovaleric acidemia
    • doi: 10.1007/BF00442995
    • Lehnert W, Niederhoff H (1981a) 4-hydroxyisovaleric acid: A new metabolite in isovaleric acidemia. Eur J Pediatr 136: 281-283. doi: 10.1007/BF00442995.
    • (1981) Eur J Pediatr , vol.136 , pp. 281-283
    • Lehnert, W.1    Niederhoff, H.2
  • 13
    • 0019422735 scopus 로고
    • 4-hydroxyisovaleric acid: A new metabolite in isovaleric acidemia
    • doi: 10.1007/BF00442995
    • Lehnert W, Niederhoff H (1981b) 4-hydroxyisovaleric acid: A new metabolite in isovaleric acidemia. Eur J Pediatr 136: 281-283. doi: 10.1007/BF00442995.
    • (1981) Eur J Pediatr , vol.136 , pp. 281-283
    • Lehnert, W.1    Niederhoff, H.2
  • 14
    • 23044444836 scopus 로고    scopus 로고
    • Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia
    • doi: 10.1373/clinchem.2005.048421
    • Loots DT, Erasmus E, Mienie LJ (2005a) Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia. Clin Chem 51: 1510-1512. doi: 10.1373/clinchem.2005.048421.
    • (2005) Clin Chem , vol.51 , pp. 1510-1512
    • Loots, D.T.1    Erasmus, E.2    Mienie, L.J.3
  • 15
    • 14344260453 scopus 로고    scopus 로고
    • Melatonin prevents the free radical and MADD metabolic profiles induced by antituberculosis drugs in an animal model
    • doi: 10.1111/j.1600-079X.2004.00176.x
    • Loots DT, Wiid IJ, Page BJ, Mienie LJ, van Helden PD (2005b) Melatonin prevents the free radical and MADD metabolic profiles induced by antituberculosis drugs in an animal model. J Pineal Res 38: 100-106. doi: 10.1111/j.1600-079X.2004.00176.x.
    • (2005) J Pineal Res , vol.38 , pp. 100-106
    • Loots, D.T.1    Wiid, I.J.2    Page, B.J.3    Mienie, L.J.4    van Helden, P.D.5
  • 16
    • 0017288490 scopus 로고
    • Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: Use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia
    • doi: 10.1016/0009-8981(76)90412-5
    • Nakamura E, Rosenberg LE, Tanaka K (1976) Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: Use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia. Clin Chim Acta 68: 127-140. doi: 10.1016/0009-8981(76)90412-5.
    • (1976) Clin Chim Acta , vol.68 , pp. 127-140
    • Nakamura, E.1    Rosenberg, L.E.2    Tanaka, K.3
  • 17
    • 4344698067 scopus 로고    scopus 로고
    • Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: Study of the effect of genetic defects on enzyme stability
    • Nasser I, Mohsen AW, Jelesarov I, Vockley J, Macheroux P, Ghisla S (2004) Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: Study of the effect of genetic defects on enzyme stability. Biochim Biophys Acta 1690: 22-32.
    • (2004) Biochim Biophys Acta , vol.1690 , pp. 22-32
    • Nasser, I.1    Mohsen, A.W.2    Jelesarov, I.3    Vockley, J.4    Macheroux, P.5    Ghisla, S.6
  • 18
    • 0018955772 scopus 로고
    • Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia
    • doi: 10.1016/0009-8981(80)90445-3
    • Naylor G, Sweetman L, Nyhan WL, et al (1980) Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. Clin Chim Acta 107: 175-183. doi: 10.1016/0009-8981(80)90445-3.
    • (1980) Clin Chim Acta , vol.107 , pp. 175-183
    • Naylor, G.1    Sweetman, L.2    Nyhan, W.L.3
  • 19
    • 0007180191 scopus 로고
    • Neue Synthese zweiatomiger einbasischer Säuren aus den Ketonen
    • Reformatskii S (1887) Neue Synthese zweiatomiger einbasischer Säuren aus den Ketonen. Chemische Berichte 20: 1210.
    • (1887) Chemische Berichte , vol.20 , pp. 1210
    • Reformatskii, S.1
  • 20
    • 0003237157 scopus 로고    scopus 로고
    • Branched chain organic acidurias
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Sweetman L, Williams JD (2001) Branched chain organic acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2125-2164.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2125-2164
    • Sweetman, L.1    Williams, J.D.2
  • 21
    • 0014216790 scopus 로고
    • The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia
    • Tanaka K, Isselbacher KJ (1967) The isolation and identification of N -isovalerylglycine from urine of patients with isovaleric acidemia. J Biol Chem 242: 2966-2972.
    • (1967) J Biol Chem , vol.242 , pp. 2966-2972
    • Tanaka, K.1    Isselbacher, K.J.2
  • 22
    • 0008263755 scopus 로고
    • Disorders of branched chain amino acid and organic acid metabolism
    • In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. New York: McGraw-Hill
    • Tanaka K, Rosenberg LE (1982) Disorders of branched chain amino acid and organic acid metabolism. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The Metabolic Basis of Inherited Diseases. New York: McGraw-Hill, 440-473.
    • (1982) The Metabolic Basis of Inherited Diseases , pp. 440-473
    • Tanaka, K.1    Rosenberg, L.E.2
  • 23
    • 0014286366 scopus 로고
    • Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia
    • Tanaka K, Orr JC, Isselbacher KJ (1968) Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochim Biophys Acta 152: 638-641.
    • (1968) Biochim Biophys Acta , vol.152 , pp. 638-641
    • Tanaka, K.1    Orr, J.C.2    Isselbacher, K.J.3
  • 24
    • 0019482697 scopus 로고
    • New metabolites in isovaleric acidemia
    • doi: 10.1016/0009-8981(81)90348-X
    • Truscott RJ, Malegan D, McCairns E, et al (1981) New metabolites in isovaleric acidemia. Clin Chim Acta 110: 187-203. doi: 10.1016/ 0009-8981(81)90348-X.
    • (1981) Clin Chim Acta , vol.110 , pp. 187-203
    • Truscott, R.J.1    Malegan, D.2    McCairns, E.3
  • 25
    • 0028168450 scopus 로고
    • Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: Minor metabolic products of the citrate synthase aldol condensation reaction
    • doi: 10.1016/0009-8981(94)90092-2
    • van Rooyen JP, Mienie LJ, Erasmus E, de Wet WJ, Duran M, Wadman SK (1994) Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: Minor metabolic products of the citrate synthase aldol condensation reaction. Clin Chim Acta 230: 91-99. doi: 10.1016/ 0009-8981(94)90092-2.
    • (1994) Clin Chim Acta , vol.230 , pp. 91-99
    • van Rooyen, J.P.1    Mienie, L.J.2    Erasmus, E.3    de Wet, W.J.4    Duran, M.5    Wadman, S.K.6
  • 26
    • 33646533134 scopus 로고    scopus 로고
    • Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
    • doi: 10.1002/ajmg.c.30089
    • Vockley J, Ensenauer R (2006). Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 142C: 95-103. doi: 10.1002/ajmg.c.30089.
    • (2006) Am J Med Genet C Semin Med Genet , vol.142 C , pp. 95-103
    • Vockley, J.1    Ensenauer, R.2
  • 27
    • 0025912906 scopus 로고
    • Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia
    • Vockley J, Parimoo B, Tanaka K (1991) Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. Am J Hum Genet 49: 147-157.
    • (1991) Am J Hum Genet , vol.49 , pp. 147-157
    • Vockley, J.1    Parimoo, B.2    Tanaka, K.3


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