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Original Article

C6–C10–Dicarboxylic aciduria: Biochemical considerations in relation to diagnosis of β-oxidation defects

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Pages 15-27 | Published online: 17 Mar 2010

References

  • Bartlett K., Gompertz D. The specificity of glycine-N-acylase and acylglycine excretion in the organic acidemias. Biochem. Med 1974; 10: 15
  • Beinert H. Acyl coenzyme A dehydrogenases. The enzymes11 eds., P. Boyer. Academic Press, New York 1963; Vol 7: 460
  • Besrat A., Polan C. E., Henderson L. M. Mammalian metabolism of glutaric acid. J. Biol. Chem 1969; 244: 1461
  • Björkhem I. Microsomal dehydrogenation of ωl-and ω2-hydroxy fatty acids. Biochim. Biophys. Acta 1972; 260: 178
  • Björkhem I. On the role of alkohol dehydrogenase in ω-oxidation of fatty acids. Eur. J. Biochem 1972; 30: 441
  • Christensen E., Kølvraa S., Gregersen N. Glutaric aciduria type II: Evidence for a defect in the electron transport system from the acyl-CoA dehydrogenases to the respiratory chain, (in Preparation)
  • Das M. L., Orrenius S., Ernster L. On the fatty acid and hydrocarbon hydroxylation in rat liver microsomes. Eur. J. Biochem 1968; 4: 519
  • Ellin Å., Orrenius S., Pilotti Å., Swahn C. G. Cytochrom P-450 of rat kidney cortex microsomes: Further studies on its interaction with fatty acids. Arch. Biochem. Biophys 1973; 158: 597
  • Glasgow A. M., Eng G., Engel A. G. Systemic carnitine deficiency simulating recurrent Reye's syndrome. J. Pediat 1980; 96: 889
  • Gompertz D. Inborn errors of organic acid metabolism. Clin. Endocrin. Metab 1974; 3: 107
  • Gregersen N., Lauritzen R., Rasmussen K. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin. Chim. Acta 1976; 70: 417
  • Gregersen N., Ingerslev J., Rasmussen K. Low molecular weight organic acids in the urine of the newborn. Acta Paediatr. Scand 1977; 66: 85
  • Gregersen N. Specific and sensitive method for the determination of C6-C10-dicarboxylic acids in serum and urine by selected ion monitoring. J. Chromatogr 1979; 162: 377
  • Gregersen N., Rosleff F., Kølvraa S., Hobolth N., Rasmussen K., Lauritzen R. Non-ketotic C6-C10 dicarboxylic aciduria: Biochemical investigation of two cases. Clin. Chim. Acta 1980; 102: 179
  • Gregersen N., Kølvraa S., Rasmussen K., Christensen E., Brandt N. J., Ebbesen F., Hansen F. H. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II. J. Inher. Metab. Dis 1980; 3: 67
  • Gregersen N., Kølvraa S. The occurrence of C6_C10-dicarboxylic acids, ethylmalonic acid, 5-OH-caproic acid, butyrylglycine, caproylglycine, isovalerylglycine, isobutyrylglycine, 2-Me-butyrylglycine and glutaric acid in the urine of riboflavin deficient rats. J. Inher. Metab. Dis
  • Gregersen N., Wintzensen H., Kølvraa S., Christensen E., Christensen M. F., Brandt N. L., Rasmussen K. C6-C10-dicarboxylic aciduria: Investigation of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defect. Pediatr. Res
  • Gregersen N., Hobolth N., (unpublished results)
  • Hall C. L., Kamin H. The purification and some-properties of electron transfer flavoprotein and general fatty acyl coenzyme-A dehydrogenase from pig liver mitochondria. J. Biol. Chem 1975; 250: 3476
  • Haller J. S. Clinical experience with Reye's syndrome. Reye's syndrome, J. D. Pollack. Grune and Stratton, Inc., New York 1975; 3
  • Hamberg M., Björkhem I. ω-oxidation of fatty acids: Mechanism of microsomal ωl- and ω2-hydroxylation. J. Biol. Chem 1971; 246: 7411
  • Hegre C. S., Halenz D. R., Lane M. D. The enzymatic carboxylation of butyryl coenzyme A. J. Am. Chem. Soc 1959; 81: 6526
  • Hoppel C., DiMarco J. P., Tandler B. Riboflavin and rat hepatic cell structure and function. J. Biol. Chem 1979; 254: 4164
  • Karpati G., Carpenter S., Engel A. G., Watters G., Allen J., Rothman S., Klassen G., Mamer O. A. The syndrome of systemic carnitine deficiency. Neurology 1975; 25: 16
  • Kerr D., Shurin S., Tserng K., Hoppel C. Metabolic effects of treatment of systemic carnitine deficiency. Pediatr. Res 1981; 15: 633
  • Kølvraa S., Gregersen N. Methods for measurement of fatty acid ß-oxidation and acyl-CoA dehydrogenase activity in cultured fibroblasts. J. Inher. Metab. Dis
  • Kølvraa S., Gregersen N., Christensen E., Hobolth N. In vitro biochemical studies in a patient with C6-C10-dicarboxylic aciduria: Evidence for a defect in general acyl-CoA dehydrogenase, (in preparation)
  • Lu A. Y.H., Coon M. J. Role of hemoprotein P-450 in fatty acid ω-hydroxylation in a soluble enzyme system from liver microsomes. J. Biol. Chem 1968; 243: 1331
  • Mantagos S., Genel M., Tanaka K. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases. J. Clin. Invest 1979; 64: 1580
  • Mitz M. A., Heinrikson R. L. Omega hydroxy fatty acid dehydrogenase. Biochim. Biophys. Acta 1961; 46: 45
  • Mortensen P. B. C6-C10-dicarboxylic aciduria in starved, fat fed and diabetic rats receiving decanoic acid or medium-chain triacylglycerol. Biochim. Biophys. Acta 1981; 664: 349
  • Mortensen P. B., Gregersen N. The biological origin of ketotic dicarboxylic aciduria: In vivo and in vitro investigations of the ω-oxidation of C6-C16-monocarboxylic acids in unstarved, starved and diabetic rats. Biochim. Biophys. Acta 1981; 666: 394
  • Mortensen P. B., Gregersen N. The biological origin of ketotic dicarboxylic aciduria. II: In vivo and in vitro investigations of the ß-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats. Biochim. Biophys. Acta 1982; 710: 477
  • Nandi D. L., Lucas S. V., Webster L. T., Benzoylcoenzyme A. Glycine N-acyltransferase from bovine liver mitochondria. J. Biol. Chem 1979; 254: 7230
  • Naylor E. W., Mosovich L. L., Guthrie R., Evans J. E., Tieckelmann. Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycemia. An apparent defect in ß-oxidation of fatty acids. J. Inher. Metab. Dis 1980; 3: 19
  • Noda C., Rhead W. J., Tanaka K. Isovaleryl-CoA dehydrogenase: Demonstration of a distinct enzyme in rat liver mitochondria. Pediatr. Res 1980; 14: 525
  • Osmundsen H., Sherratt H. S.A. A novel mechanism for inhibition by methylenecyclopropyl-CoA, a metabolite of hypoglycin. FEBS Lett 1975; 55: 38
  • Osmundsen H., Sherratt H. S.A. The effect of pent-4-enoate and methylenecyclopropylacetate on some enzymes of ß-oxidation in extracts of liver mitochondria. Biochem. Soc. Trans 1975; 3: 330
  • Pettersen J. E., Jellum E., Eldjarn L. The occurrence of adipic and suberic acid in urine from ketotic patients. Clin. Chim. Acta 1972; 38: 17
  • Pettersen J. E. Formation of n-hexanedioic acid from hexadecanoic acid by an initial ω-oxidation in ketotic rats. Clin. Chim. Acta 1972; 41: 231
  • Pettersen J. E. In vitro studies on the metabolism of hexadecanedioic acid and its mono-L-carnitine ester. Biochim. Biophys. Acta 1973; 306: 1
  • Preiss B., Bloch K. ω-oxidation of long chain fatty acids in rats liver. J. Biol. Chem 1964; 239: 85
  • Rasmussen K., Ando T., Nyhan W. L., Hull D., Cottom D., Donnell C., Wadlington W., Kilroy A. W. Excretion of propionylglycine in propionic acidemia. Clin. Sci 1972; 42: 665
  • Robbins K. C. Enzymatic omega oxidation of fatty acids. Federation proc 1964; 20: 272
  • Robbins K. C. In vitro enzymic ω-oxidation of medium-chain fatty acids in mammalian tissue. Arc. Biochem 1968; 123: 531
  • Romshe C. A. Laboratory diagnosis of Reye's syndrome. Reye's syndrome, J. D. Pollack. Grune and Stratton, Inc., New York 1975; 15
  • Ruzicka F. J., Beinert H. A new iron-sulfur flavo-protein of the respiratory chain. J. Biol. Chem 1977; 252: 8440
  • Tanaka K., Isselbacker K. J. The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia. J. Biol. Chem 1967; 242: 2966
  • Tanaka K., Kean E. A., Johnson B. Jamaican vomiting sickness: Biochemical investigation of two cases. N. Engl. J. Med 1976; 295: 461
  • Truscott R. J.W., Hick L., Pullin C., Halpern S., Wilcken B., Griffiths H., Silink M., Kilham H., Grunseit F. Dicarboxylic aciduria. Response to fasting. Clin. Chim. Acta 1979; 94: 31
  • Verkade P. E., Van der Lee J. Untersuchungen über den fettstoffwechsel IV. Z. Physiol. Chem 1934; 227: 213
  • Verkade P. E., Van der Lee J. Researches on fat metabolism II. Biochem. J 1934; 28: 31
  • Wada F., Shibata H., Goto M., Sakamoto Y. Participation of the microsomal electron transport system involving cytochrome P450 in ω-oxidation of fatty acids. Biochim. Biophys. Acta 1968; 162: 518
  • Wakabayashi K., Shimazono N. Studies in vitro on the mechanism of ω-oxidation of fatty acids. Biochim. Biophys. Acta 1961; 48: 615
  • Wakabayashi K., Shimazono N. Studies on the ω- oxidation of fatty acids in vitro. I. Overall reaction and intermediate. Biochim. Biophys. Acta 1963; 70: 132

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