Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation

Genetics in Medicine

Volumn 2, Issue 6, 2000, Pages 338-344

  Rinaldo, P ^a   Matern, D ^a  

^a MAYO CLINIC   (United States)

Author keywords

Fatty acid transport; Mitochondrial oxidation; Newborn screening; Sudden death

Indexed keywords

FATTY ACID;

CONFERENCE PAPER; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; FATTY ACID OXIDATION; FATTY ACID TRANSPORT; HUMAN; INBORN ERROR OF METABOLISM; MASS SPECTROMETRY; MATERNAL CARE; METABOLIC PARAMETERS; MITOCHONDRION; NEWBORN SCREENING; PREGNANCY COMPLICATION; SUDDEN DEATH;

EID: 0034521895     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200011000-00006     Document Type: Conference Paper

References (44)

1. Mammalian mitochondrial β-oxidation
2. Fatty acid oxidation disorders: Clinical and biochemical features
3. Clinical phenotypes: Diagnosis/algorithms
4. Inborn errors of mitochondrial fatty acid oxidation
5. Newborn screening by tandem mass spectrometry: A new era
6. Tandem mass spectrometry in newborn screening
7. Medium chain acyl-coenzyme A (MCAD) deficiency
8. Sudden adult death and medium-chain acyl-CoA dehydrogenase deficiency
9. Medium-chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review
10. Diagnosis of TFP deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis
11. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
12. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem liver of 418 cases of sudden unexpected death in the first year of life
13. Heterozygosity for the common LCHAD mutation (1528G>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low
14. Serving the family from birth to the medical home. Newborn screening: A blueprint for the future-A call for a national agenda on state newborn screening programs
15. A fetal fatty acid oxidation disorder causes maternal liver disease of pregnancy
16. Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy
17. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation
18. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency
19. The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency
20. Successful pregnancy of severe methylmalonic acidaemia
21. The international study of pregnancy outcome in women with maternal phenylketonuria: Report of a 12-year study
22. Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
23. Sudden and unexpected neonatal death: A protocol for the postmortem diagnosis of fatty acid oxidation disorders
24. Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile
25. Targeted disruption of mouse long-chain acyl-CoA dehydrogenase reveals crucial role in fatty acid oxidation
26. Fulminant hepatic failure: Pediatric aspects
27. A defect in the transport of long-chain fatty acids associated with acute liver failure
28. 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
29. Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study
30. Biochemical diagnosis of inborn errors of metabolism
31. Medium-chain 3-ketoacyl-CoA thiolase deficiency: A new disorder of mitochondrial fatty acid β-oxidation
32. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
33. Synergistic heterozygosity: Metabolic disease resulting from multiple partial defects in one or more metabolic pathways
34. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency
35. Ethylmalonic aciduria is associated with an amino acid variant (G209S) of short-chain acyl-coenzyme A dehydrogenase (SCAD)
36. 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
37. Role of common variant alleles in the molecular basis of short-chain acyl-CoA dehydrogenase deficiency
38. Tissue specific differences in intramitochondrial control of β-oxidation
39. Preliminary evidence for the existence of specific functional assemblies between enzymes of the beta-oxidation pathway and the respiratory chain
40. A critical role for the peroxisome proliferator-activated receptor alpha (PPARα) in the cellular fasting response: The PPARα-null mouse as a model of fatty acid oxidation disorders
41. Isolation and characterization of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family
42. Uncoupling proteins 2 and 3: Potential regulators of mitochondrial energy metabolism
43. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
44. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and system dynamics