Combined enzyme defect of mitochondrial fatty acid oxidation

Journal of Clinical Investigation

Volumn 90, Issue 4, 1992, Pages 1219-1225

  Jackson, Sandra ^a   Singh Kler, Rajinder ^a   Bartlett, Kim ^a   Briggs, Helen ^a   Bindoff, Laurence A ^a   Pourfarzam, Morteza ^a   Gardner Medwin, David ^a   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Deficiency; Fatty acids; Mitochondria; Oxidation

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ENOYL COENZYME A HYDRATASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFECT; FATTY ACID OXIDATION; FEMALE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MITOCHONDRIAL RESPIRATION; MUSCLE WEAKNESS; PRESCHOOL CHILD; PRIORITY JOURNAL;

3-HYDROXYACYL COA DEHYDROGENASES; ADULT; CASE REPORT; CHILD, PRESCHOOL; ENOYL-COA HYDRATASE; FATTY ACIDS; FEMALE; HUMAN; LIPID METABOLISM, INBORN ERRORS; MALE; MITOCHONDRIA; MUSCULAR DISEASES; OXIDATION-REDUCTION; SUPPORT, NON-U.S. GOV'T;

EID: 0026488067     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI115983     Document Type: Article

References (30)

1. Jackson, S., and D. M. Turnbull. 1992. Lipid Disorders of Muscle. In The Molecular and Genetic Basis of Neurological Disease. R. N. Rosenberg, S. B. Prusiner, R. L. Barchi, L. M. Kunkel, and S. DiMauro, editors. Butterworths, Stoneham, MA. In press.
2. Schulz, H. 1990. Mitochondrial β-oxidation. In Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. K. Tanaka and P. M. Coates, editors. Alan R. Liss, Inc., New York. 23-36.
3. Roe, C. R., and P. M. Coates. Acyl-CoA dehydrogenase deficiencies. In The Metabolic Basis of Inherited Disease. C. R. Scriver, L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, Inc., New York. 889-914.
4. Loehr, J. P., S. I. Goodman, and F. E. Frerman. 1990. Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes. Pediatr. Res. 27:311-315.
5. Jackson, S., K. Bartlett, J. Land, E. R. Moxon, R. J. Pollitt, J. V. Leonard, and D. M. Turnbull. 1991. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr. Res. 29:406-411.
6. Bartlett, K., A. Aynsley-Green, J. V. Leonard, and D. M. Turnbull. 1991. Inherited disorders of mitochondrial β-oxidation. In Inborn Errors of Metabolism. Nestle Nutr. Workshop Ser. 19-40.
7. Kelly, D. P., A. J. Whelan, M. L. Ogden, R. Alpers, Z. Zhang, G. Bellus, N. Gregersen, I. Dorland, and A. W. Strauss. 1990. Molecular characterisation of inherited medium-chain acyl-CoA dehydrogenase deficiency. Proc. Natl. Acad. Sci. USA. 87:9236-9240.
8. Yokota, I., Y. Indo, P. M. Coates, and K. Tanaka. 1990. Molecular basis of medium-chain acyl-coenzyme A dehydrogenase deficiency. J. Clin. Invest. 86:1000-1003.
9. 14C]hexadecanoate oxidation by HPLC using continuous on-line radiochemical detection. Biochem. J. 253:541-547.
10. Birch-Machin, M. A., I. M. Shepherd, N. J. Watmough, K. Bartlett, H. S. A. Sherratt, A. Aynsley-Green, D. Milligan, V. Darley-Usmar, and D. M. Turnbull. 1989. Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. Pedialr. Res. 25:553-559.
11. Singh Kler, R., S. Jackson, K. Bartlett, L. A. Bindoff, S. Eaton, M. Pourfarzam, F. E. Frerman, S. I. Goodman, N. J. Watmough, and D. M. Turnbull. 1991. Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. J. Biol. Chem. 266:22932-22938.
12. 14-C]hexadecanoate oxidation by rat liver mitochondria. Biochem. J. 262:261-269.
13. Turnbull, D. M., K. Bartlett, D. L. Stevens, K. G. M. M. Alberti, G. J. Gibson, M. A. Johnson, A. J. McCulloch, and H. S. A. Sherratt. 1984. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N. Engl. J. Med. 311:1232-1236.
14. Pedersen, G. L. 1977. A simplification of the protein assay method of Lowry et al. which is more generally applicable. Anal. Biochem. 83:346-356.
15. Uchida, Y., K. Izai, T. Orii, and T. Hashimoto. 1992. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II Purification and properties of enoyl-coenzyme A (CoA) hydratase/ 3-hydroxyacyl-CoA dehydrogenase/ 3-ketoacyl-CoA thiolase trifunctional protein. J. Biol. Chem. 267:1034-1041.
16. Carpenter, K., R. J. Pollitt, and B. Middleton. 1992. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem. Biophys. Res. Commun. 183:443-448.
17. Frerman, F. E., and S. I. Goodman. 1985. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone octoreductase in glutaric aciduria Type II fibroblasts. Proc. Natl. Acad. Sci. USA. 82:4517-4520.
18. Hale, D. E., C. Thorpe, K. Braat, J. H. Wright, C. R. Roe, P. M. Coates, T. Hashimoto, and A. M. Glasgow. The L-3-hydroxyacyl-CoA dehydrogenase deficiency. In Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. K. Tanaka and P. M. Coates, editors. Alan R. Liss, Inc., New York. 503-510.
19. Rocchiccioli, F., R. J. A. Wanders, P. Aubourg, C. Vianey-Liaud, L. Ijlst, M. Fabre, N. Cartier, and P.-F. Bougneres. 1990. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr. Res. 28:657-662.
20. Bertini, E., M. Sabatelli, B. Garavaglia, A. B. Burlina, M. Rimoldi, E. Ricci, C. Dionisi-Vici, A. Bartuli, G. Sabetta, and S. DiDonato. 1990. Myopathy and sensory-motor polyneuropathy in long-chain 3-OH-acyl-CoA dehydrogenase deficiency. J. Neurol. Sci. 98(Suppl.):273.
21. Wanders, R. J. A., L. Ijlst, A. H. Van Gennip, C. Jakobs, J. P. De Jager, L. Dorland, F. J. Van Sprang, and M. Duran. 1990. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid β-oxidation. J. Inherited Metab. Dis. 13:311-314.
22. Dionisi-Vici, C., A. B. Burlina, E. Bertini, C. Bachmann, M. R. M. Mazziotta, F. Zacchello, G. Sabetta, and D. E. Hale. 1991. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J. Pediatr. 118:744-746.
23. Duran, M., R. J. A. Wanders, J. P. de Jager, L. Dorland, L. Bruinvis, D. Ketting. L. Ijlst, and F. J. van Sprang. 1991. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur. J. Pediatr. 150:190-195.
24. Wanders, R. J. A., M. Duran, L. Iljst, J. P. de Jaeger, A. H. van Gennip, C. Jakobs, L. Dorland, F. J. van Sprang. 1989. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet. ii:52-53.
25. Glasgow, A. M., A. G. Engel, D. M. Bier, L. W. Perry, M. Dickie, J. Todaro, D. I. Brown, and N. F. Utter. 1983. Hypoglycaemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet. Pediatr. Res. 17:319-326.
26. Pollitt, R. J. 1990. Clinical and biochemical presentations in twenty cases of hydroxydicarboxylic aciduria. In Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. K. Tanaka and P. M. Coates, editors. Alan R. Liss, Inc., New York. 495-502.
27. Bhuiyan, A. K. M. J., S. Jackson, D. M. Turnbull, A. Aynsley-Green, J. V. Leonard, and K. Bartlett. 1992. The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation. Clin. Chim. Acta. 207:185-204.
28. Staak, H., J. F. Binstock, and H. Schulz. 1978. Purification and properties of a pig heart thiolase with broad chain length specificity and comparison of thiolases from pig heart and Escherischia coli. J Biol. Chem. 253:1827-1831.
29. 14C] fatty acid oxidation. Biochem. Med. Metab. Biol. 35:248-59.
30. Sherratt, H. S. A., N. J. Watmough, M. A. Johnson, and D. M. Turnbull. 1988. Methods for study of normal and abnormal skeletal muscle mitochondria. Methods Biochem. Anal. 33:243-335.