New developments in the pathophysiology, clinical spectrum, and diagnosis of disorders of fatty acid oxidation

Current Opinion in Pediatrics

Volumn 12, Issue 5, 2000, Pages 463-468

  Treem, William R ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOMYOPATHY; FATTY ACID OXIDATION; HUMAN; LIVER FAILURE; METABOLIC DISORDER; PATHOPHYSIOLOGY; PREGNANCY COMPLICATION; PRIORITY JOURNAL; REVIEW; SUDDEN INFANT DEATH SYNDROME;

ACETYL COENZYME A; CARNITINE; FATTY ACIDS; FEMALE; FETAL DISEASES; HUMANS; INFANT; LIPID METABOLISM, INBORN ERRORS; LIVER DISEASES; MALE; OXIDATION-REDUCTION; PREGNANCY; PREGNANCY COMPLICATIONS; SUDDEN INFANT DEATH;

EID: 0033829022     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200010000-00008     Document Type: Review

References (35)

1. Inborn defects in mitochondrial fatty acid oxidation
2. Inborn errors of fasting adaptation
3. Beta oxidation defects: Biochemistry and clinical
4. Recognition and management of fatty acid oxidation defects: A series of 107 patients
5. Disorders of mitochondrial fatty acyl-CoA β-oxidation
6. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts
7. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
8. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
9. Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2 degree strain of mouse with similarities to Reye's syndrome
10. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
11. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
12. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
13. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and indentification in four patients of nine different mutations within the VLCAD gene
14. Mitochondrial very-long-chain acylcoenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
15. Long-chain acylcarnitine increases intracellular Ca++ and induces arrythmias after depolarization in adult ventricular myocytes
16. Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
17. Potentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles
18. Molecular heterogeneity in very-long chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death
19. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life
20. 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 β-oxidation
21. Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death
22. Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency
23. Sudden and unexpected neonatal death: A protocol for the postmortem diagnosis of fatty acid oxidation disorders
24. Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and early·onset liver cirrhosis in two siblings
25. A defect in the transport of long-chain fatty acids associated with acute liver failure
26. Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring
27. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
28. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
29. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
30. Microvesicular fatty liver disorders: Inborn defects in mitochondrial fatty acid oxidation?
31. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
32. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
33. Hepatic carnitine palmitoyl-transferase I deficiency presenting as maternal illness in pregnancy
34. Broadening the spectrum of fetal fatty acid β-oxidation disorders causing liver disease in pregnant women
35. Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications