Fatty acid oxidation disorders

Annual Review of Physiology

Volumn 64, Issue , 2002, Pages 477-502

  Rinaldo, Piero ^a   Matern, Dietrich ^a   Bennett, Michael J ^a  

^a MAYO CLINIC   (United States)

Author keywords

Carnitine; Inborn errors; Ketogenesis; Membrane transport; Tissue specificity

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE PALMITOYLTRANSFERASE; CELL ENZYME; FATTY ACID;

ENERGY RESOURCE; ENVIRONMENTAL FACTOR; ENZYME BINDING; ENZYME MECHANISM; FATTY ACID METABOLISM; FATTY ACID OXIDATION; FATTY ACID TRANSPORT; GENETIC DISORDER; HEREDITY; HUMAN; MEMBRANE TRANSPORT; METABOLIC DISORDER; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL RESPIRATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW;

ANIMALS; FATTY ACIDS; HUMANS; LIPID METABOLISM, INBORN ERRORS; OXIDATION-REDUCTION;

EID: 0036197207     PISSN: 00664278     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.physiol.64.082201.154705     Document Type: Review

References (109)

1. Mammalian mitochondrial β-oxidation
2. Thermogenic mechanisms in brown fat
3. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria
4. Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
5. Reye's syndrome in the United States from 1981 through 1997
6. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem liver of 418 cases of sudden unexpected death in the first year of life
7. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
8. Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome
9. A defect in the transport of long-chain fatty acids associated with acute liver failure
10. A fetal fatty acid oxidation disorder causes maternal liver disease of pregnancy
11. Disorders of mitochondrial fatty acyl-CoA β-oxidation
12. Inborn errors of mitochondrial fatty acid oxidation
13. Cellular uptake of long-chain fatty acids: Role of membrane-associated fatty-acid-binding/transport proteins
14. Mechanisms of cellular uptake of long chain free fatty acids
15. A family of fatty acid transporters conserved from mycobacterium to man
16. Carnitine: Metabolism and functions
17. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
18. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis
19. Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene
20. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT IA and CPT IB)
21. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
22. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase
23. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I: Purification and properties of very-long-chain acyl coenzyme A dehydrogenase
24. Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme
25. Targeted disruption of mouse long-chain acyl-CoA dehydrogenase reveals crucial role in fatty acid oxidation
26. Very long-chain acyl-CoA dehydrogenase deficiency is distinct from long-chain acyl-CoA dehydrogenase deficiency in the mouse
27. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II: Purification and properties of enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein
28. Human long-chain 3-hydroxyacyl-CoA dehydrogenase is a multifunctional membrane-bound β-oxidation enzyme of mitochondria
29. Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both alpha and beta subunits
30. Intact α-subunit is required for membrane-binding of human mitochondrial trifunctional β-oxidation protein, but is not necessary for conferring 3-ketoacyl-CoA thiolase activity to the β-subunit
31. 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 trifunctional protein alpha subunit gene
32. Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits
33. Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase
34. Characterisation of a novel enzyme of human fatty acid β-oxidation: A matrix-associated, mitochondrial 2-enoyl-CoA hydratase
35. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: Medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase
36. Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver
37. A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease
38. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: Cloning and characterization of the coding sequence
39. The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes
40. Medium-chain 3-ketoacyl-CoA thiolase deficiency: A new disorder of mitochondrial fatty acid β-oxidation
41. Complementation analysis of six patients with a defect of long-chain fatty acid transport in fibroblasts
42. Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
43. Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations
44. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts
45. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
46. Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency
47. Laboratory diagnosis of inborn errors of metabolism
48. Carnitine palmitoyltransferase deficiencies
49. Features of carnitine palmitoyltransferase type I deficiency
50. Molecular characterization of liver-type carnitine palmitoyltransferase I (L-CPT-I) deficiency in six patients: Insights into function of the native enzyme
51. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
52. Molecular resolution of carnitine palmitoyltransferase I deficiency in a Hutterite family
53. A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
54. A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
55. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
56. Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation
57. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
58. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
59. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
60. The long chain acyl-CoA dehydrogenase deficiency
61. Molecular heterogeneity in very long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death
62. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
63. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid β-oxidation
64. 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 trifunctional protein β-subunit gene
65. Combined enzyme defect of mitochondrial fatty acid oxidation
66. Potential pathogenic roles of aberrant lipoprotein and fatty acid metabolism in pre-eclampsia
67. Lipoprotein subfraction concentrations in preeclampsia: Pathogenic parallels to atherosclerosis
68. Ketone body metabolism in the mother and fetus
69. Lipid metabolism in the fetus and the newborn
70. Fatty acid oxidation (FAO) in normal human placenta: Developmental expression and activity of enzymes of mitochondrial β-oxidation
71. Metabolic disease in the fetus predispose to maternal complications of pregnancy
72. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation
73. Placental floor infarction complicating the pregnancy of a fetus with long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
74. Medium chain acyl-coenzyme A (MCAD) deficiency
75. Sudden adult death and medium-chain acyl-CoA dehydrogenase deficiency
76. Rapid diagnosis of MCAD deficiency: Quantitatively analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
77. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
78. Molecular and functional characterisation of mild MCAD deficiency
79. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency
80. Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation
81. Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause of recurrent myoglobinuria and encephalopathy
82. Mitochondrial short-chain L-3-hydroxybutyryl-CoA dehydrogenase deficiency: A new defect of fatty acid oxidation
83. Fatal hepatic short-chain L-3-hydroxyacylcoenzyme A dehydrogenase deficiency: Clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation
84. A mouse model for medium and short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
85. Applications of mass spectrometry in the study of inborn errors of metabolism
86. Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene
87. Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness
88. The emerging clinical and biochemical picture of short-chain acyl-CoA dehydrogenase deficiency
89. Role of common variant alleles in the molecular basis of short-chain acyl-CoA dehydrogenase deficiency
90. 2,4-Dienoyl-coenzyme A reductase deficiency: A possible new disorder of fatty acid oxidation
91. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
92. Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency
93. Clinical, biochemical and molecular characterization of 3-hydroxy 3-methylglutaryl-CoA synthase deficiency
94. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinical course and description of causal mutations in two patients
95. 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency
96. Glutaric acidemia type II: Heterogeneity of clinical and biochemical phenotypes
97. Riboflavin responsive glutaric aciduria type II
98. Retrospective diagnosis of very long chain acyl-CoA dehydrogenase deficiency from an infant's newborn screening card
99. Fatty acid oxidation disorders: Clinical and biochemical features
100. The metabolic autopsy comes of age
101. Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: Implications for gene therapy of human mitochondrial enzyme deficiencies
102. Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-20 strain of mouse with similarities to Reye's syndrome
103. Short-chain acyl-coenzyme A dehydrogenase deficiency in mice
104. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
105. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
106. Preliminary evidence for the existence of specific functional assemblies between enzymes of the beta-oxidation pathway and the respiratory chain