Mitochondrial Fatty-Acid Oxidation Disorders

Seminars in Pediatric Neurology

Volumn 15, Issue 3, 2008, Pages 140-149

  Kompare, Michelle ^a   Rizzo, William B ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2,4 DIENOYL COENZYME A REDUCTASE (NADPH); ACETYL COENZYME A; ACETYLSALICYLIC ACID; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; AMMONIA; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARRIER PROTEIN; DIAZOXIDE; DOCOSAHEXAENOIC ACID; FATTY ACID; GLUCOSE; MEDIUM CHAIN FATTY ACID; MEDIUM CHAIN TRIACYLGLYCEROL; SHORT CHAIN FATTY ACID; VERY LONG CHAIN FATTY ACID;

BLOOD LEVEL; CARDIOMYOPATHY; CITRIC ACID CYCLE; CLINICAL FEATURE; DIAGNOSTIC TEST; DIET SUPPLEMENTATION; DISEASE SEVERITY; ENZYME DEFICIENCY; FAMILY STUDY; FATTY ACID OXIDATION; FIBROBLAST; GENE MUTATION; HELLP SYNDROME; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; LACTIC ACIDOSIS; LIVER DYSFUNCTION; METABOLIC ACIDOSIS; METABOLITE; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL RESPIRATION; MUSCLE WEAKNESS; MYALGIA; NEWBORN SCREENING; ONSET AGE; PERIPHERAL NEUROPATHY; PRENATAL DIAGNOSIS; REVIEW; REYE SYNDROME; RHABDOMYOLYSIS; TANDEM MASS SPECTROMETRY; URINE LEVEL;

DIAGNOSIS, DIFFERENTIAL; FATTY ACIDS; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEONATAL SCREENING; OXIDATION-REDUCTION;

EID: 49149109956     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2008.05.008     Document Type: Review

References (51)

1. Roe C.R., and Ding J. Mitochondrial fatty acid disorders, in. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The Metabolic & Molecular Bases of Inherited Disease. (ed 8) (2001), McGraw-Hill, New York, NY 2297-2326
2. Chace D.H., Kalas T.A., and Naylor E.W. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 49 (2003) 1797-1817
3. Wanders R.J.A., Barth P.G., and Heymans H.A.S. Single peroxisomal enzyme deficiencies, in. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The Metabolic & Molecular Bases of Inherited Disease. (ed 8) (2001), McGraw-Hill, New York, NY 3219-3256
4. Ghisla S. β-oxidation of fatty acids. A century of discovery. Eur J Biochem 271 (2004) 459-461
5. Foster D.W. The role of the carnitine system in human metabolism. Ann N Y Acad Sci 1033 (2004) 1-16
6. Stanley C.A. Carnitine deficiency disorders in children. Ann N Y Acad Sci 1033 (2004) 42-51
7. He M., Rutledge S.L., Kelly D.R., et al. A new genetic disorder in mitochondrial fatty acid β-oxidation: ACAD9 deficiency. Am J Hum Genet 81 (2007) 87-103
8. Angdisen J., Moore V.D., Cline J.M., et al. Mitochondrial trifunctional protein defects: Molecular basis and novel therapeutic approaches. Curr Drug Targets Immune Endocr Metabol Disord 5 (2005) 27-40
9. Shekhawat P.S., Matern D., and Strauss A.W. Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: Impact of expanded newborn screening on their diagnosis and management. Pediatr Res 57 (2005) 78R-86R
10. Longo N., di San Filippo C.A., and Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet Part C 142C (2006) 77-85
11. Ogier de Baulney H., Slama A., Touati G., et al. Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr 127 (1995) 723-728
12. Sigauke E., Rakheja D., Kitson K., et al. Carnitine palmitoyltransferase II deficiency: A clinical, biochemical, and molecular review. Lab Invest 83 (2003) 1543-1554
13. Deschauer M., Wieser T., and Zierz S. Muscle carnitine palmitoyltransferase II deficiency. Clinical and molecular genetic features and diagnostic aspects. Arch Neurol 62 (2005) 37-41
14. Bonnefont J.P., Djouadi F., Prip-Buus C., et al. Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects. Mol Aspects Med 25 (2004) 495-520
15. Djouadi F., Aubey F., Schlemmer D., et al. Peroxisome proliferators activated receptor δ (PPAR δ) agonist but not PPARα corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells. J Clin Endocrinol Metab 90 (2005) 1791-1797
16. Voermans N.C., van Engelen B.G., Kluijtmans L.A., et al. Rhabdomyolysis caused by an inherited metabolic disease: Very long-chain acyl-CoA dehydrogenase deficiency. Am J Med 119 (2006) 176-183
17. Doi T., Abo W., Tateno M., et al. Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year old Japanese boy. Eur J Pediatr 159 (2000) 9908-9911
18. Hoffman J.D., Steiner R.D., Paradise L., et al. Rhabdomyolysis in the military: Recognizing late-onset very long-chain acyl CoA dehydrogenase deficiency. Mil Med 171 (2006) 657-658
19. Liebig M., Schymik I., Meuller M., et al. Neonatal screening for very long-chain acyl-CoA dehydrogenase deficiency: Enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118 (2006) 1065-1069
20. Primassin S., Ter Veld F., Mayatepek E., et al. Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res 63 (2008) 632-637
21. Grosse S.D., Khoury M.J., Greene C.L., et al. The epidemiology of medium-chain acyl-CoA dehydrogenase deficiency: An update. Genet Med 8 (2006) 205-212
22. Wilcken B., Haas M., Joy P., et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study. Lancet 369 (2007) 37-42
23. Derks T.G., Reijngoud D.J., Waterham H.R., et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome. J Pediatr 148 (2006) 665-670
24. Chace D.H., Hillman S.L., Van Hove J.L., and Naylor E.W. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 43 (1997) 2106-2113
25. Wilson C.J., Champion M.P., Collins J.E., Clayton P.T., and Leonard J.V. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 80 (1999) 459-462
26. van Maldegem B.T., Duran M., Wanders R.J., et al. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 296 (2006) 943-952
27. Bok L.A., Vreken P., Wijburg F.A., et al. Short-chain acyl-CoA dehydrogenase deficiency: Studies in a large family adding to the complexity of the disorder. Pediatrics 112 (2003) 1152-1155
28. Bhala A., Willi S.M., Rinaldo P., et al. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 126 (1995) 910-915
29. Amendt B.A., Greene C., Sweetman L., et al. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest 79 (1987) 1303-1309
30. Dawson D.B., Waber L., Hale D.E., et al. Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 126 (1995) 69-71
31. Yang S.-Y., He X.-Y., and Schulz H. 3-Hydroxyacyl-coA dehydrogenase and short chain 3-hydroxyacyl-coA dehydrogenase in human health and disease. FEBS J 272 (2005) 4874-4883
32. Clayton P.T., Eaton S., Aynsley-Green A., et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion. J Clin Invest 108 (2001) 457-465
33. Bennett M.J., Weinberger M.J., Kobori J.A., et al. Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation. Pediatr Res 39 (1996) 185-188
34. De León D.D., and Stanley C.A. Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab 3 (2007) 57-68
35. Tyni T., and Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr 88 (1999) 237-245
36. den Boer M.E., Wanders R.J., Morris A.A., et al. Heymans SA, Wijburg FA. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients. Pediatrics 109 (2002) 99-104
37. Rakheja D., Bennett M.J., and Rogers B.B. Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A molecular and biochemical review. Lab Invest 82 (2002) 815-824
38. Tyni T., Paetau A., Strauss A.W., et al. Mitochondrial fatty acid β-oxidation in the human eye and brain: Implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 56 (2004) 744-750
39. Oey N.A., den Boer M.E., Wijburg F.A., et al. Long-chain fatty acid oxidation during early human development. Pediatr Res 57 (2005) 755-759
40. Tyni T., Palotie A., Viinikka L., et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients. J Pediatr 130 (1997) 67-76
41. Lund A.M., and Leonard J.V. Feeding difficulties in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency. Arch Dis Child 85 (2001) 487-488
42. Tein I., Vajsar J., VacMillan L., et al. Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response t cod liver oil. Neurology 52 (1999) 640-643
43. Jackson S., Kler R.S., Bartlett K., et al. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 90 (1992) 1219-1225
44. Wanders R.J., IJlst L., Poggi F., et al. Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 188 (1992) 1139-1145
45. Spiekerkoetter U., Bennett M.J., Ben-Zeev B., et al. Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 29 (2004) 66-72
46. Den Boer M.E., Dionisis-Vici C., Chakrapani A., et al. Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 142 (2003) 684-689
47. Yamazaki H., Torigoe K., Numata O., et al. Mitochondrial trifunctional protein deficiency in a lethal neonate. Pediatr Int 46 (2004) 178-180
48. Schwab K.O., Ensenauer R., Matern D., et al. Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome. Eur J Pediatr 162 (2003) 90-95
49. Das A.M., Illsinger S., Lücke T., et al. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem 52 (2006) 530-534
50. Yu W., Chu X., Chen G., et al. Studies of human mitochondrial 2,4-dienoyl-CoA reductase. Arch Biochem Biophys 434 (2005) 195-200
51. Roe C.R., Millington D.S., Norwood D.L., et al. 2,4-Dienoyl-coenzyme A reductase deficiency: A possible new disorder of fatty acid oxidation. J Clin Invest 85 (1990) 1703-1707