Fatty acid oxidation defects in muscle

Current Opinion in Neurology

Volumn 11, Issue 5, 1998, Pages 485-490

  Morris, Andrew A M ^a,b   Turnbull, Douglass M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE; FATTY ACID; MEDIUM CHAIN TRIACYLGLYCEROL; PREDNISOLONE; RIBOFLAVIN; STEROID;

BLOOD ANALYSIS; CARNITINE DEFICIENCY; DIET; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; MOLECULAR GENETICS; MUSCLE DISEASE; MUSCLE WEAKNESS; RECURRENT DISEASE; REVIEW; RHABDOMYOLYSIS; TANDEM MASS SPECTROMETRY;

FATTY ACIDS; HUMANS; MUSCLE WEAKNESS; MUSCLES; OXIDATION-REDUCTION; RHABDOMYOLYSIS;

EID: 0031755885     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199810000-00011     Document Type: Review

References (50)

1. Eaton S, Bartlett K, Pourfarzam M. Mammalian mitochondrial β-oxidation. Biochem J 1996; 320:345-357.
2. Jackson S, Schaefer J, Middleton B, Tumbull DM. Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase. Biochem Biophys Res Commun 1995; 214:247-253.
3. Tein I. Metabolic myopathies. Seminars in Pediatric Neurology 1996; 3:59-98.
4. Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S. Identification of a common mutation in the camitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nature Genet 1993; 4:314-320.
5. Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 1994; 44:467-473.
6. Smelt A, Poorthuis B, Onkenhout W, Scholte H, Andresen B, van Duinen S, et al. Very long chain acyl-CoA dehydrogenase deficiency with adult onset. Ann Neurol 1998; 43:540-544. This is a report on a patient with VLCAD deficiency presenting with adult-onset rhabdomyolysis. The mutations are reported, together with the response to MCT.
7. Schaefer J, Jackson S, Dick D, Turnbull DM. Trifunctional enzyme deficiency: adult presentation of a usually fatal β-oxidation defect. Ann Neurol 1996; 40:597-602.
8. Miyajima H, Orii KE, Shindo Y, Hashimoto T, Shinka T, Kuhara T, et al. Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. Neurology 1997; 49:833-837. A second report of an adult with TFP deficiency. This man did not have neuropathy unlike the family reported in [7]. The mutations (in the β-subunit) are reported in [39].
9. Straussberg R, Harel L, Varsano I, Elpeleg ON, Shamir R, Amir J. Recurrent myoglobinuria as a presenting manifestation of very long chain acyl-CoA dehydrogenase deficiency. Pediatrics 1997; 99:894-896.
10. Dionisi-Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, et al. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991; 118:744-746.
11. Tein I, Donner EJ, Hale DE, Murphy EG. Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisolone. Pediatr Neurol 1995; 12:68-76.
12. Tyni T, Palotie A, Viinikka L, Valanne L, Salo M, von Dobeln U, et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of 13 patients. J Pediatr 1997; 130:67-76. This paper and [44] describe the clinical and histological features in 13 LCHAD-deficient patients, most of whom were diagnosed post mortem. All of the patients had cardiomyopathy and hypotonia. None had symptoms of rhabdomyolysis but several had episodic rises in crealine kinase.
13. Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot M-T, Mathieu M, Roe CR. Mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 1998; 269:43-62. The largest published series of VLCAD deficient patients. Enzyme assays, flux measurements and β-oxidation intermediates are compared in subjects with and without cardiomyopathy. Relatively little clinical information is given.
14. Dionisi-Vici C, Garavaglia B, Bartuli A, Invemizzi F, DiDonato S, Sabetta G et al. Camitine acylcamitine translocase deficiency: benign course without cardiac involvement [abstract]. Pediatr Res 1995; 37:147A.
15. 12 substrates was 31-59% of the mean control values. The authors suggest that the residual activity may have been used by the peroxisomal thiolase.
16. Ruitenbeek W, Poels PJE, Tumbull DM, Garavaglia B, Chalmers RA, Taylor RW, Gabreels FJM. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. J Neurol Neurosurg Psychiatry 1995; 58:209-214.
17. Tein I, De Vivo DC, Hale DE, Clarke JTR, Zinman H, Laxer R, et al. Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 1991; 30:415-419.
18. Yamazaki N, Shinohara Y, Shima A, Yamanaka Y, Terada H. Isolation and characterization of cDNA and genomic clones encoding human muscle type camitine palmitoyltransferase I. Biochim Biophys Acta 1996; 1307:157-161.
19. Haworth JC, Demaugre F, Booth FA, Dilling LA, Moroz SP, Seshia SS, et al. Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. J Pediatr 1992; 121:553-557.
20. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, et al. Purification of human very-long-chain acyl-CoA dehydrogenase and characterisation of its deficiency in seven patients. J Clin Invest 1995; 95:2465-2473.
21. Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP. Brief report: a deficiency of carnitine-acylcamitine translocase in the inner mitochondrial membrane. N Engl J Med 1992; 327:19-23.
22. Coates PM, Hale, DE, Finocchiaro G, Tanaka K, Winter SC. Genetic deficiency of short-chain acyl-CoA dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 1988; 81:171-175.
23. Baerlocher KE, Steinmann B, Aguzzi A, Krahenbuhl S, Roe CR, Vianey-Saban C. Short-chain acyl-CoA dehydrogenase deficiency in a 16-year old girt with severe muscle wasting and scoliosis. J Inherit Metab Dis 1997; 20:427-431.
24. Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in camitine uptake. Ann Neurol 1991; 30:709-716.
25. Pons R, Carrozzo R, Tein I, Walker W, Addonizio LJ, Rhead W, et al. Deficient muscle camitine transport in primary camitine deficiency. Pediatr Res 1997; 42:583-587
26. Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, Ursino E, DiDonato S. Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency. Neurology 1994; 44:2153-2158.
27. Rashed M, Ozand P, Bucknall M, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcamitine and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995; 38:324-331.
28. Vianey-Saban C, Guffon N, Delolne F, Guibaud P, Mathieu M, Divry P. Diagnosis of inborn errors of metabolism by acylcamitine profiling in blood using tandem mass spectrometry. J Inher Metab Dis 1997; 20:411-414.
29. Moore SJ, Haites N, Broom I, White I, Coleman R, Pourfarzam M, Morris AAM. Acylcamitine analysis in the investigation of myopathy. J Inherit Metab Dis 1998; 21:427-428.
30. Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, et al. Molecular analysis of camitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 1996; 58:971-978.
31. 3H]oleic acid. J Inherit Metab Dis 1997; 20:415-419.
32. Schaefer J, Jackson S, Taroni F, Swift P, Tumbull DM. Characterisation of carnitine palmitoyltransferases in patients with a camitine palmitoyltransferase deficiency: implications for diagnosis and treatment. J Neurol Neurosurg Psychiatry 1997; 62:169-176. Histone type II-AS permeabilises cells, whilst preserving mitochondrial integrity. This paper describes the use of histones for analysis of β-oxidation intermediates and for a simplified CPT assay. The modified assay was used to show that CPT I and II act on medium-chain as well as long-chain substrates: medium-chain fatty acids may enter mitochondria by carnitine dependent as well as carnitine independent pathways.
33. Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med 1997; 337:1203-1207. This child with a defect of hepatic ketogenesis presented with clinical and biochemical features resembling a β-oxidation defect; there were no cardiac, muscular or neurological abnormalities. Diagnosis required a liver biopsy.
34. Morris AAM, Lascelles CV, Olpin SE, Lake B, Leonard JV, Quant PA. Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. Pediatr Res 1998; 44:392-396.
35. Gregersen N, Winter V, Corydon M, Rinaldo P, Ribes A, Martinez G, et al. Identification of 4 new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C →T, is present at an unexpectedly high frequency in the general population, as was the case for 625G →A, together conferring susceptibility to ethylmalonic aciduria. Hum Molec Genet 1998; 7:619-627. Variant forms ot SCAD are associated with ethylmalonic aciduria The relevance of the ethylmalonic aciduria to clinical problems is not yet clear.
36. Huizing M, Iacobazzi V, IJlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, et al. Cloning of the human carnitine acylcarnitine carrier cDNA and identification of the molecular detect in a patient. Am J Hum Genet 1997; 61:1239-1245. As one might expect, carnitine acylcarnitine translocase is expressed at highest levels in heart, muscle and liver and shows sequence homology with other mitochondrial transport proteins. A homozygous mutation altering the C-terminal domain was identified in a patient with a relatively mild phenotype.
37. Kaufmann P, el-Schahawi M, DiMauro S. Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis in blood. Molec Cell Biochem 1997; 174:237-239.
38. IJlst L, Ruiter J, Hoovers J, Jakobs M, Wanders RJA. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Clin Invest 1996; 98:1028-1033.
39. Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S. et al. Genomic and mutation analysis of the mitochondrial trifunctional protein β-subunit (HADHB) gene in patients with tritunctional protein deficiency. Hum Molec Genet 1997; 6:1215-1224.
40. Souri M, Aoyama T, Orii K, Yamaguchi S, Hashimoto T. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterisation of mutant VLCAD cDNAs from four patients. Am J Hum Genet 1996; 58:97-106.
41. Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot M-T, Roe CR, et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification of nine mutations within the VLCAD gene. Hum Molec Genet 1996; 5:461-472.
42. Ventura FV, Ruiter JP, IJlst L, Almeida IT, Wanders RJA. Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilised fibroblasts. Biochim Biophys Acta 1995; 1272:14-20.
43. Ventura FV, Ruiter JP, IJlst L, Almeida IT, Wanders RJA. Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid β-oxidation intermediates on the oxidation phosphorylation system. J Inher Metab Dis 1996; 19:161-164.
44. Tyni T, Majander A, Kalimo H, Rapola J, Pinko H. Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. Neuromusc Disord 1996; 6:327-337.
45. Little JR, Goto M, Spitzer JJ. Effect of ketones on metabolism of FFA by dog myocardium and skeletal muscle in vivo. Am J Physiol 1970; 219:1458-1463.
46. Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 1991; 29:406-411.
47. Morris AAM, Clayton PT, Surtees RA, Leonard JV. Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1997; 131:938.
48. Brown-Harrison MC, Nada MA, Sprecher H, Vianey-Saban C, Farquhar J, Gilladoga AC, Roe CR. Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Molec Med 1996; 58:59-65
49. Stanley CA. Carnitine disorders. Adv Pediatr 1995; 42:209-242.
50. Walter JH. L-Carnitine. Arch Dis Child 1996; 74:475-478.