Chapter 9 Inherited Disorders of Mitochondrial Fatty Acid β-Oxidation

Blue Books of Practical Neurology

Volumn 26, Issue C, 2002, Pages 257-297

  Wanders, R J A ^a   Duran, M ^a   Wijburg, F A ^a  

^a NONE

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[No Author keywords available]

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EID: 77957121416     PISSN: 18773419     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1877-3419(09)70068-6     Document Type: Article

References (111)

1. Wanders R., Barth P.G., and Heymans H. Single Peroxisomal Enzyme Deficiencies. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic & Molecular Bases of Inherited Disease. (2001), McGraw-Hill, New York 3219-3256
2. Van der Vusse G.J., Glatz J.F., Stam H.C., and Reneman R.S. Fatty acid homeostasis in the normoxic and ischemic heart. Physiol Rev 72 (1992) 881-940
3. McGarry J.D., and Brown N.F. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem 244 (1997) 1-14
4. McGarry J.D. Glucose-fatty acid interactions in health and disease. Am J Clin Nutr 67 (1998) 500S-504S
5. Scholte H.R. The intracellular and intramitochondrial distribution of malonyl-CoA decarboxylase and propionyl-CoA carboxylase in rat liver. Biochim Biophys Acta 178 (1969) 137-144
6. Sacksteder K.A., Morell J.C., Wanders R., et al. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. J Biol Chem 274 (1999) 24461-24468
7. Lopaschuk G.D., Witters L.A., Itoi T., et al. Acetyl-CoA carboxylase involvement in the rapid maturation of fatty acid oxidation in the newborn rabbit heart. J Biol Chem 269 (1994) 25871-25878
8. Abumrad N., Coburn C., and Ibrahimi A. Membrane proteins implicated in long-chain fatty acid uptake by mammalian cells: CD36, FATP and FABPm. Biochim Biophys Acta 1441 (1999) 4-13
9. Storch J., and Thumser A.E. The fatty acid transport function of fatty acid-binding proteins. Biochim Biophys Acta 1486 (2000) 28-44
10. Glatz J.F.C., and Storch J. Unraveling the significance of cellular fatty acid-binding proteins. Curr Opin Lipidol 12 3 (2001) 267-274
11. Kleinfeld A.M. Lipid phase fatty acid flip-flop, is it fast enough for cellular transport?. J Membr Biol 175 (2000) 79-86
12. Richieri G.V., and Kleinfeld A.M. Unbound free fatty acid levels in human serum. J Lipid Res 36 (1995) 229-240
13. Febbraio M., Abumrad N.A., Hajjar D.P., et al. A null mutation in murine CD36 reveals an important role in fatty acid and lipoprotein metabolism. J Biol Chem 274 (1999) 19055-19062
14. Coburn C.T., Knapp F.F., Febbraio M., et al. Defective uptake and utilization of long chain fatty acids in muscle and adipose tissues of CD36 knockout mice. J Biol Chem 275 (2000) 32523-32529
15. Schaffer J.E., and Lodish H.F. Expression cloning and characterization of a novel adipocyte long chain fatty acid transport protein. Cell 79 (1994) 427-436
16. Hirsch D., Stahl A., and Lodish H.F. A family of fatty acid transporters conserved from mycobacterium to man. Proc Natl Acad Sci U S A 95 (1998) 8625-8629
17. Watkins P.A., Lu J.F., Steinberg S.J., et al. Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations. J Biol Chem 273 (1998) 18210-18219
18. Watkins P.A., Pevsner J., and Steinberg S.J. Human very long-chain acyl-CoA synthetase and two human homologs: initial characterization and relationship to fatty acid transport protein. Prostaglandins Leukot Essent Fatty Acids 60 (1999) 323-328
19. Coe N.R., Smith A.J., Frohnert B.I., et al. The fatty acid transport protein (FATP1) is a very long chain acyl-CoA synthetase. J Biol Chem 274 (1999) 36300-36304
20. Glatz J.F., and Van der Vusse G.J. Cellular fatty acid-binding proteins: their function and physiological significance. Prog Lipid Res 35 (1996) 243-282
21. Binas B., Danneberg H., McWhir J., et al. Requirement for the heart-type fatty acid binding protein in cardiac fatty acid utilization. FASEB J 13 (1999) 805-812
22. Schaap F.G., Binas B., Danneberg H., et al. Impaired long-chain fatty acid utilization by cardiac myocytes isolated from mice lacking the heart-type fatty acid binding protein gene. Circ Res 85 (1999) 329-337
23. Stanley C.A. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Pediatr 34 (1987) 59-88
24. Tamai I., Ohashi R., Nezu J., et al. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem 273 (1998) 20378-203782
25. Nezu J., Tamai I., Oku A., et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 21 (1999) 91-94
26. Lamhonwah A.M., and Tein I. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Biochem Biophys Res Commun 252 (1998) 396-401
27. Tang N.L.S., Ganapathy V., Wu X., et al. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum Mol Genet 8 (1999) 655-660
28. Burwinkel B., Kreuder J., Schweitzer S., et al. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem Biophys Res Commun 261 (1999) 484-487
29. Vaz F.M., Scholte H.R., Ruiter J.P.N., et al. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. Hum Genet 105 (1999) 157-161
30. Bieber L.L. Carnitine. Annu Rev Biochem 57 (1988) 261-283
31. 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
32. Wanders R., Vreken P., Den Boer M., et al. Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis 22 (1999) 442-487
33. Wanders R., Denis S., Ruiter J.P.N., et al. 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 (1998) 35-40
34. Le W., Abbas A.S., Sprecher H., et al. Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids. Biochim Biophys Acta 1485 (2000) 121-128
35. Yamaguchi S., Indo Y., Coates P.M., et al. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 34 (1993) 111-113
36. Izai K., Uchida Y., Orii T., et al. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase. J Biol Chem 267 (1992) 1027-1033
37. Aoyama T., Uchida Y., Kelley R.I., et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191 (1993) 1369-1372
38. Bertrand C., Largilliere C., Zabot M.T., et al. Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180 (1993) 327-329
39. Uchida Y., Izai K., Orii T., and Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoylcoenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 267 (1992) 1034-1041
40. Luo M.J., Mao L.F., and Schulz H. Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: purification and characterization of a novel enzyme of isoleucine metabolism. Arch Biochem Biophys 321 (1995) 214-220
41. Zschocke J., Ruiter J.P.N., Brand J., et al. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res 48 (2000) 852-855
42. Mitchell G.A., and Fukao T. Inborn Errors of Ketone Body Metabolism. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic & Molecular Basis of Inherited Disease. (2001), McGraw-Hill, New York 2327-2356
43. Frerman F.E., and Goodman S.I. Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type I. I. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic & Molecular Basis of Inherited Disease. (2001), McGraw-Hill, New York 2357-2365
44. Lafolla A.K., Thompson Jr. R.J., and Roe C.R. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 124 (1994) 409-415
45. DiMauro S., and DiMauro P.M. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182 (1973) 929-931
46. Eriksson B.O., Linstedt S., and Nordin I. Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts. Eur J Pediatr 147 (1988) 662-663
47. Treem W.R., Stanley C.A., Finegold D.N., et al. Primary carnitine deficiency due to a failure of car-nitine transport in kidney, muscle, and fibroblasts. N Engl J Med 319 (1988) 1331-1336
48. Tein I., De Vivo D.C., Bierman F., et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 28 (1990) 247-255
49. Stanley C.A., Deleeuw S., Coates P.M., et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 30 (1991) 709-716
50. Bougnères P.F., Saudubray J.M., Marsac C., et al. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98 (1981) 742-746
51. Stanley C.A., Hale D.E., Berry G.T., et al. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 327 (1992) 19-23
52. Olpin S.E., Bonham J.R., Downing M., et al. Carnitine-acylcarnitine translocase deficiency-a mild phenotype. J Inherit Metab Dis 20 (1997) 714-715
53. Morris A.A., Olpin S.E., Brivet M., et al. A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr 132 (1998) 514-516
54. Lopriore E., Gemke R.J., Verhoeven N.M., et al. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr 160 (2001) 101-104
55. Ogier de Baulny H., Slama A., Touati G., et al. Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr 127 (1995) 723-728
56. Vreken P., Van Lint A., Bootsma A.H., et al. Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma. Adv Exp Med Biol 466 (1999) 327-337
57. Huizing M., Iacobazzi V., IJlst L., et al. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 61 (1997) 1239-1245
58. Costa C., Costa J.M., Nuoffer J.M., et al. Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency. J Inherit Metab Dis 22 (1999) 267-270
59. IJlst L., van Roermund C.W.T., Iacobazzi V., et al. Functional analysis of mutant human carnitine acylcarnitine translocases in yeast. Biochem Biophys Res Commun 280 (2001) 700-706
60. Hug G., Bove K.E., and Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltrans-ferase II. N Engl J Med 325 (1991) 1862-1864
61. North K.N., Hoppel C.L., De Girolami U., et al. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127 (1995) 414-420
62. Demaugre F., Bonnefont J.P., Mitchell G., et al. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res 24 (1988) 308-311
63. Demaugre F., Bonnefont J.P., Colonna M., et al. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87 (1991) 859-864
64. Taroni F., Verderio E., Dworzak F., et al. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4 (1993) 314-320
65. Hale D.E., Batshaw M.L., Coates P.M., et al. Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res 19 (1985) 666-671
66. Smelt A., Poorthuis B.J.H.M., Onkenhout W., et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43 (1998) 540-544
67. Andresen B.S., Olpin S.E., Poorthuis B.J.H.M., et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64 (1999) 479-494
68. Patel J.S., and Leonard J.V. Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 18 (1995) 98-99
69. 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
70. Coates P.M., Hale D.E., Finocchiaro G., et al. 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 81 (1988) 171-175
71. Sewell A.C., Herwig J., Bohles H., et al. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 152 (1993) 922-924
72. 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
73. Dawson D.B., Waber L., Hale D.E., and Bennett M.J. Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 126 (1995) 69-71
74. Baerlocher K.E., Steinmann B., Aguzzi A., et al. Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. J Inherit Metab Dis 20 (1997) 427-431
75. Ribes A., Riudor E., Garavaglia B., et al. Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr 157 (1998) 317-320
76. Tein I., Haslam R., Rhead W.J., et al. Short-chain acyl-CoA dehydrogenase deficiency. A cause of ophthalmologia and multicore myopathy. Neurology 52 (1999) 366-372
77. Corydon M.J., Vockley J., Rinaldo P., et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 49 (2001) 18-23
78. Corydon M.J., Gregersen N., Lehnert W., et al. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res 39 (1996) 1059-1066
79. Gregersen N., Winter V.S., Corydon M.J., et al. Identification of four 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 Mol Genet 7 (1998) 619-627
80. Ventura F.V., Costa C.G., Struys E.A., et al. Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 281 (1999) 1-17
81. Wanders R., Duran M., IJlst L., et al. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 2 (1989) 52-53
82. Glasgow A.M., Engel A.G., Bier D.M., et al. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res 17 (1983) 319-326
83. Rocchiccioli F., Wanders R., Aubourg P., et al. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 28 (1990) 657-662
84. 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
85. Schaefer J., Jackson S., Dick D.J., et al. Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect. Ann Neurol 40 (1996) 597-602
86. Jackson S., Kler R.S., Bartlett K., et al. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 90 (1992) 1219-1225
87. Wanders R., 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
88. Brackett J.C., Sims H.F., Rinaldo P., et al. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. J Clin Invest 95 (1995) 2076-2082
89. Dionisi-Vici C., Garavaglia B., Burlina A.B., et al. Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 129 (1996) 159-162
90. Ushikubo S., Aoyama T., Kamijo T., et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha-and beta-subunits. Am J Hum Genet 58 (1996) 979-988
91. Miyajima H., Orii K.E., Shindo Y., et al. Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. Neurology 49 (1997) 833-837
92. Mize C.E., Waber L.J., Anderson T., and Bennett M.J. Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease. J Inherit Metab Dis 20 (1997) 407-410
93. Mayatepek E., Wanders R., Becker M., et al. Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria. J Inherit Metab Dis 18 (1995) 249-252
94. Vreken P., Van Lint A., Bootsma A.H., et al. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis 22 (1999) 302-306
95. IJlst L., Wanders R., Ushikubo S., et al. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215 (1994) 347-350
96. Sims H.F., Brackett J.C., Powell C.K., et al. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A 92 (1995) 841-845
97. IJlst L., Ruiter J.P.N., Hoovers J.M., et al. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial tri-functional protein alpha subunit gene. J Clin Invest 98 (1996) 1028-1033
98. Orii K.E., Aoyama T., Wakui K., et al. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. Hum Mol Genet 6 (1997) 1215-1224
99. Ibdah J.A., Tein I., Dionisi-Vici C., et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 102 (1998) 1193-1199
100. Kamijo T., Indo Y., Souri M., et al. Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Pediatr Res 42 (1997) 569-576
101. Bennett M.J., Weinberger M.J., Kobori J.A., et al. Mitochondrial short-chain L-3-hydroxyacyl-coen-zyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatr Res 39 (1996) 185-188
102. Bennett M.J., Spotswood S.D., Ross K.F., et al. Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. Pediatr Dev Pathol 2 (1999) 337-345
103. Treacy E.P., Lambert D.M., Barnes R., et al. Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: a family study. J Pediatr 137 (2000) 257-259
104. Clayton P.T., Eaton S., Aynsley-Green A., et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in the control of insulin secretion. J Clin Invest 108 3 (2001) 457-465
105. de Visser M., Scholte H.R., Schutgens R.B.H., et al. Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology 36 (1986) 367-372
106. Uziel G., Garavaglia B., Ciceri E., et al. Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatr Neurol 13 (1995) 333-335
107. Thompson G.N., Hsu B.Y., Pitt J.J., et al. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med 337 (1997) 1203-1207
108. Morris A.A., Lascelles C.V., Olpin S.E., et al. Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency. Pediatr Res 44 (1998) 392-396
109. Bouchard L., Robert M.F., Vinarov D., et al. Mitochondrial 3-hydroxy-3-methylglutaryl-coa synthase deficiency: clinical course and description of causal mutations in two patients. Pediatr Res 49 (2001) 326-331
110. Tildon J.T., and Cornblath M. A cause for ketoacidosis in infancy. J Clin Invest 51 (1972) 493
111. Nada M.A., Vianey-Saban C., Roe C.R., et al. Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn 16 (1996) 117-124