A dozen genetic defects in the fatty acid-oxidation pathway are currently known. Nearly all of these defects present in early infancy as acute, life-threatening episodes of hypoketotic, hypoglycemic coma induced by fasting [1–3]. In some of the disorders, there may also be chronic skeletal-muscle weakness or acute exercise-induced rhabdomyolysis and acute or chronic cardiomyopathy. Recognition of the fatty acid-oxidation disorders is often difficult, because patients can appear well until they undergo prolonged fasting.
KeywordsKetone Cardiomyopathy NADH Triglyceride Hypoglycemia
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- 10.Pande SV, Brivet B, Slama A et al. (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 91: 1247–1252Google Scholar
- 14.Demaugre F, Bonnefont JP, Colonna M et al. (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859–864Google Scholar
- 20.Wanders RJ, Denis S, Ruiter JP, Ijlst L, Dacremont G (1998) 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation. Biochim Biophys Acta 1393: 35–40Google Scholar
- 23.Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K (1992) The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A-G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene. Prog Clin Biol Res 375: 425–440PubMedGoogle Scholar
- 24.Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K (1991) Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 49: 1280–1291PubMedGoogle Scholar
- 26.Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC (1988) Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 81x71–175Google Scholar
- 27.Gregersen N, Winter VS, Corydon MJ et al. (1998) Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 51C -s T, is present at an unexpectedly high frequency in the general population, as was the case for 625G -s A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 7: 619–627PubMedCrossRefGoogle Scholar
- 29.Tyni T, Pihko H (1999) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Review article. Acta Paediatr 88: 237–245Google Scholar
- 38.Roe C, Millington D, Norwood D et al. (1990) 2,4-Dienoylcoenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest 85: 1703–1707Google Scholar
- 41.Gibson K, Breuer J, Nyhan W (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported cases. Eur J Pediatr 148: 180–186Google Scholar
- 43.Millington DS, Terada N, Chace DH et al. (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In: Coates PM, Tanaka K (eds) New developments in fatty acid oxidation. Progress in clinical and biochemical research. New York, John Wiley-Liss, pp 339–354Google Scholar
- 46.Rinaldo P, O’Shea JJ, Coates PM et al. (1988) Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine [published erratum appears in N Engl J Med 1989, 320 (18):1227]. N Engl J Med 319: 1308–1313Google Scholar
- 47.Runsby G, Seakins J, Leonard J (1886) A simple screening test for medium chain acyl-CoA dehydrogenase deficiency. Lancet 2: 467Google Scholar