acyl coa dehydrogenase

Summary

Summary: A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.

Top Publications

  1. ncbi The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update
    Scott D Grosse
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA
    Genet Med 8:205-12. 2006
  2. ncbi Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
  3. ncbi Adult presentation of MCAD deficiency revealed by coma and severe arrythmias
    F Feillet
    Service de Réanimation Médicale Pédiatrique, Hôpital d Enfants, CHU Brabois, Allee du Morvan, Vandoeuvre les Nancy, 54500 Nancy, France
    Intensive Care Med 29:1594-7. 2003
  4. ncbi Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency
    M Duran
    Pediatrics 78:1052-7. 1986
  5. ncbi Structure and chromosomal location of the mouse medium-chain acyl-CoA dehydrogenase-encoding gene and its promoter
    R J Tolwani
    Department of Comparative Medicine, School of Medicine, University of Alabama at Birmingham 35294 0019, USA
    Gene 170:165-71. 1996
  6. ncbi Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
    K Maclean
    Department of Medical Genetics, Sydney Children s Hospital, Sydney, Australia
    Acta Paediatr 94:114-6. 2005
  7. ncbi Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Esther M Maier
    Research Center, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mutat 25:443-52. 2005
  8. pmc 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 i
    B S Andresen
    Research Unit for Molecular Medicine, Arhus University Hospital and Faculty of Health Science, Skejby Sygehus, and Institute of Human Genetics, University of Arhus, Arhus, Denmark
    Am J Hum Genet 68:1408-18. 2001
  9. ncbi Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations
    Leigh Waddell
    The NSW Newborn Screening Programme, Children s Hospital at Westmead, Sydney, Australia
    Mol Genet Metab 87:32-9. 2006
  10. ncbi Short-chain acyl-coenzyme A dehydrogenase deficiency in mice
    P A Wood
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Pediatr Res 25:38-43. 1989

Detail Information

Publications202 found, 100 shown here

  1. ncbi The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update
    Scott D Grosse
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA
    Genet Med 8:205-12. 2006
    ..Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts...
  2. ncbi Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
    ..With SCAD deficiency, the challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically...
  3. ncbi Adult presentation of MCAD deficiency revealed by coma and severe arrythmias
    F Feillet
    Service de Réanimation Médicale Pédiatrique, Hôpital d Enfants, CHU Brabois, Allee du Morvan, Vandoeuvre les Nancy, 54500 Nancy, France
    Intensive Care Med 29:1594-7. 2003
    ..This is one of only a few reports of severe cardiac arrhythmia in an adult due to MCAD deficiency. This condition is probably under-diagnosed in adult patients with acute neurological and/or cardiac presentations...
  4. ncbi Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency
    M Duran
    Pediatrics 78:1052-7. 1986
    ..Careful monitoring of at-risk patients during a minor illness is necessary...
  5. ncbi Structure and chromosomal location of the mouse medium-chain acyl-CoA dehydrogenase-encoding gene and its promoter
    R J Tolwani
    Department of Comparative Medicine, School of Medicine, University of Alabama at Birmingham 35294 0019, USA
    Gene 170:165-71. 1996
    ..Biol. Chem. 268 (1993) 13805-13810]. We have mapped mouse Acadm to the distal end of chromosome 3. Sequences previously localized to chromosome 8 are shown to be a pseudogene, and an additional pseudogene was identified on chromosome 11...
  6. ncbi Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
    K Maclean
    Department of Medical Genetics, Sydney Children s Hospital, Sydney, Australia
    Acta Paediatr 94:114-6. 2005
    ..The cessation of intralipid and the commencement of carnitine supplementation were associated with a rapid clinical improvement...
  7. ncbi Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Esther M Maier
    Research Center, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mutat 25:443-52. 2005
    ..Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening...
  8. pmc 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 i
    B S Andresen
    Research Unit for Molecular Medicine, Arhus University Hospital and Faculty of Health Science, Skejby Sygehus, and Institute of Human Genetics, University of Arhus, Arhus, Denmark
    Am J Hum Genet 68:1408-18. 2001
    ..A carrier frequency of 1/500 in the general population makes the 199T-->C mutation one of the three most prevalent mutations in the enzymes of fatty-acid oxidation...
  9. ncbi Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations
    Leigh Waddell
    The NSW Newborn Screening Programme, Children s Hospital at Westmead, Sydney, Australia
    Mol Genet Metab 87:32-9. 2006
    ..In the meantime, all MCAD patients identified by newborn screening have, by definition, a functional defect and require careful clinical management...
  10. ncbi Short-chain acyl-coenzyme A dehydrogenase deficiency in mice
    P A Wood
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Pediatr Res 25:38-43. 1989
    ..This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases...
  11. ncbi Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Pediatrics 111:1399-406. 2003
    ....
  12. ncbi Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
    Bridget Wilcken
    Children s Hospital at Westmead, Sydney, NSW 2145, Australia
    Lancet 369:37-42. 2007
    ..Our aim was to assess the overall effectiveness of neonatal screening for MCAD deficiency in Australia...
  13. ncbi Newborn screening for medium chain acyl CoA dehydrogenase deficiency
    J V Leonard
    Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK
    Arch Dis Child 94:235-8. 2009
    Medium chain acyl CoA dehydrogenase deficiency (MCADD) is an uncommon inborn error of fatty acid oxidation that is a preventable cause of morbidity and mortality...
  14. pmc Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue
    D P Kelly
    Proc Natl Acad Sci U S A 84:4068-72. 1987
    ..The isolation and characterization of MCAD cDNA is an important step in the definition of the defect underlying MCAD deficiency and in understanding its metabolic consequences...
  15. ncbi Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein
    Linda P O'Reilly
    Department of Biochemistry and Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Belfield, Dublin, Ireland
    FEBS J 272:4549-57. 2005
    ..R256T, by contrast, is a well-folded protein that is nevertheless devoid of catalytic activity. How the mutations specifically affect the catalytic activity and the folding is further discussed...
  16. ncbi The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
    B S Andresen
    Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Science, Denmark
    Hum Mol Genet 6:695-707. 1997
    ..Different mutations may contribute with different susceptibilities for disease precipitation, when the patient is subjected to metabolic stress, but other genetic and environmental factors may play an equally important role...
  17. ncbi Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
    B Z Yang
    Kimberly H Courtwright and Joseph W Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA
    Mol Genet Metab 69:259-62. 2000
    ..Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G...
  18. pmc Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation
    I Yokota
    Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510
    J Clin Invest 86:1000-3. 1990
    ..Thus, this A----G-985 transition is the single prevalent mutation causing MCAD deficiency, a highly unusual feature for any genetic disorder. The PCR/Nco I digestion method is suitable for the diagnosis of MCAD deficiency...
  19. ncbi Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Denmark
    Eur J Pediatr 159:S213-8. 2000
    ..For the prevalent mutations in the LCHAD and CPT II genes further data are needed to evaluate the penetrance and risk of manifest disease when carrying these mutations...
  20. ncbi Structure of the transition state analog of medium-chain acyl-CoA dehydrogenase. Crystallographic and molecular orbital studies on the charge-transfer complex of medium-chain acyl-CoA dehydrogenase with 3-thiaoctanoyl-CoA
    Atsuko Satoh
    Department of Chemistry, Graduate School of Science, Osaka City University, Sumiyoshi ku, Osaka 558 8585
    J Biochem 134:297-304. 2003
    ..The structure of the highest occupied molecular orbital of the complex revealed the electron flow pathway from a substrate to the flavin ring...
  21. ncbi Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability
    Ibrahim Nasser
    Department of Biology, University of Konstanz, P O Box 5560 M644, D 78457 Konstanz, Germany
    Biochim Biophys Acta 1690:22-32. 2004
    ..With the T168A-MCAD and A282V-i3VD mutants, however, the diminished thermal stability and minor stabilization by ligands must be regarded as an important factor contributing to the manifestation of the disease...
  22. ncbi Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population
    Matthew J Nichols
    Division of Genetic Disorders, Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, New York 12201, USA
    Am J Med Genet A 146:610-9. 2008
    ..These results suggest that p.K304E has a far lower representation in New York newborns with MCADD than current literature estimates and its full mutational spectrum is still unknown...
  23. pmc Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site
    B Kuchler
    Faculty of Biology, University of Konstanz, P O Box 5560 M644, D 78434 Konstanz, Germany
    Biochem J 337:225-30. 1999
    ..7 (T168A-MCADH) and the rates of enzyme flavin reduction (stopped-flow measurements) are only approx. 1/10 those of the parent enzyme. These properties are discussed in the light of the possible mechanisms leading to disease in humans...
  24. ncbi A new role of anandamide in human sperm: focus on metabolism
    Saveria Aquila
    Department of Pharmaco Biology, University of Calabria, Arcavacata di Rende, Cosenza, Italy
    J Cell Physiol 221:147-53. 2009
    ..Altogether these findings highlight a pivotal involvement of the CB1-R in the control of sperm energy homeostasis and propose a new site of action for endocannabinoids in the control of energy metabolism...
  25. ncbi Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective
    William J Rhead
    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
    J Inherit Metab Dis 29:370-7. 2006
    ..Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, reduces morbidity and mortality, and merits expansion to other populations worldwide...
  26. ncbi Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase
    Y Matsubara
    J Biol Chem 262:10104-8. 1987
    ..The sequencing of other homologous acyl-CoA dehydrogenases will be informative in this regard...
  27. ncbi The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
    Terry G J Derks
    Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 148:665-670. 2006
    ..To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  28. ncbi Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
    D H Chace
    Neo Gen Screening, Pittsburgh, PA 15220, USA
    Clin Chem 43:2106-13. 1997
    ..No false-positive and no known false-negative results have been found. A validated method now exists for prospective newborn screening for MCAD deficiency...
  29. ncbi The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive
    Linda O'Reilly
    Department of Biochemistry and the Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Ireland
    Eur J Biochem 271:4053-63. 2004
    ..Our study suggests that Y42H is a temperature sensitive mutation, which is mild at low temperatures, but may have deleterious effects at increased temperatures...
  30. ncbi Molecular cloning and characterization of the mouse medium-chain acyl-CoA dehydrogenase cDNA
    R J Tolwani
    Department of Comparative Medicine, School of Medicine, University of Alabama at Birmingham 35294 0019
    Genomics 23:247-9. 1994
    ..Amino acid residues where substitutions result in human MCAD deficiency are conserved in the mouse. Amino acid residues involved in important enzymatic functions are also conserved...
  31. ncbi Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan
    Go Tajima
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734 8551, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 823:122-30. 2005
    ..These results indicate that the method can be a useful confirmatory test for MS/MS screening of MCAD deficiency...
  32. pmc Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice
    Ravi J Tolwani
    Department of Genetics, University of Alabama, Birmingham, Alabama, USA
    PLoS Genet 1:e23. 2005
    ..The MCAD-deficient mouse reproduced important aspects of human MCAD deficiency and is a valuable model for further analysis of the roles of fatty acid oxidation and pathogenesis of human diseases involving fatty acid oxidation...
  33. ncbi Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy
    Ingrid Tein
    Division of Neurology, The Hospital for Sick Children, 555 University Ave, Toronto, ON M5G 1X8
    J Child Neurol 17:3S57-82; discussion 3S82-3. 2002
    ..Indications for carnitine supplementation in childhood epilepsy are also discussed...
  34. ncbi A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
    Jürgen G Okun
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Biochim Biophys Acta 1584:91-8. 2002
    ..In conclusion, this novel technique is a powerful tool for the investigation of fatty acid oxidation disorders under standardized conditions in fibroblasts...
  35. ncbi Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Hum Mutat 22:12-23. 2003
    ....
  36. ncbi Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement
    Neil Gordon
    Dev Med Child Neurol 47:207-10. 2005
  37. ncbi Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel
    Ralph P Insinga
    Department of Population Health Sciences and the Wisconsin State Laboratory of Hygiene, University of Wisconsin Madison, 53726 2397, USA
    J Pediatr 141:524-31. 2002
    ..To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organic acidemia disorders in the Wisconsin Newborn Screening Program...
  38. ncbi [Metabolic crisis in an infant--is the problem in the mitochondria?]
    Tiina Tyni
    Lastenneurologian klinikka HUS n lasten ja nuorten sairaala PL 280, 00029 HUS
    Duodecim 118:1331-9. 2002
  39. ncbi Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations
    Keow Giak Sim
    Department of Paediatrics and Child Health, University of Sydney, NSW, Australia
    Mol Genet Metab 76:327-34. 2002
    ..This would be particularly useful information for the asymptomatic/pre-symptomatic FAO-deficient infant detected by the expanded newborn screening program, in whom the risk of developing symptoms later in life is not known...
  40. ncbi Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening
    Ho Wen Hsu
    New England Newborn Screening Program, University of Massachusetts Medical School, 305 South St, Jamaica Plain, MA 02130, USA
    Pediatrics 121:e1108-14. 2008
    ....
  41. ncbi Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle
    Tiina Tyni
    Department of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK
    Pediatr Res 52:64-70. 2002
    ..Measurement of fatty acid oxidation intermediates from myoblasts or myotubes is an additional tool in investigating pathogenetic mechanisms of myopathy in beta-oxidation defects...
  42. ncbi Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns
    Vinod N Alluri
    College of Public Health, University of Oklahoma Health Sciences Center, USA
    J Okla State Med Assoc 95:326-8. 2002
    ..In Oklahoma and elsewhere, there is current discussion, which we summarize, on whether or not to include MCAD deficiency in the routine neonatal screening program. We suggest the evidence says, "Start now."..
  43. ncbi Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening
    Marion Haas
    Centre for Health Economics Research and Evaluation, University of Technology, Sydney, Australia
    J Pediatr 151:121-6, 126.e1. 2007
    ..MCAD deficiency is a potentially lethal disorder of fatty-acid oxidation...
  44. ncbi Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency
    M A Chiong
    Western Sydney Genetics Program, Children s Hospital at Westmead, and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Mol Genet Metab 92:109-14. 2007
    ..The underlying molecular basis of the mother's defect in riboflavin metabolism remains to be established...
  45. ncbi Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
    T G J Derks
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 31:88-96. 2008
    ..Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results...
  46. ncbi Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro
    Stanley H Korman
    Department of Clinical Biochemistry, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Mol Genet Metab 82:121-9. 2004
    ..Interestingly, all family members were 625G > A homozygous. Additional genetic and/or environmental factors must play a major role in determining the phenotypic diversity of MCADD...
  47. ncbi Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
    D C Lehotay
    University of Saskatchewan College of Medicine, Saskatoon, Saskatchewan, Canada
    J Inherit Metab Dis 27:81-8. 2004
    ....
  48. ncbi Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification
    Regina Ensenauer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Genet Med 7:339-43. 2005
    ..The common MCAD gene (ACADM) mutation 985A>G (p.K329E), accounting for the majority of cases in Caucasians, has not been detected in this ethnic group, and the spectrum of ACADM mutations has remained unknown...
  49. ncbi Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation
    B Blois
    Department of Biology, Acadia University, Wolfville, NS, Canada
    J Inherit Metab Dis 28:551-6. 2005
    ..These results contribute to the interpretation of C8-acylcarnitine levels and the establishment of a more clinically relevant screening cut-off point...
  50. ncbi Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry
    Giancarlo la Marca
    Rapid Commun Mass Spectrom 17:2688-92. 2003
  51. ncbi Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
    N Napolitano
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Parkville, VIC 3052, Australia
    J Inherit Metab Dis 27:465-71. 2004
    ..These results indicated that the abnormal carnitines were significantly elevated only during periods of increased fatty acid catabolism, as may occur in the immediate postnatal period...
  52. ncbi Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands
    Christian S van der Hilst
    Office for Medical Technology Assessment, University of Groningen, University Medical Center Groningen, The Netherlands
    J Pediatr 151:115-20, 120.e1-3. 2007
    ..To assess the cost-effectiveness of neonatal screening on medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a homogeneous population...
  53. ncbi Expanded screening of newborns for genetic disorders
    Susan E Waisbren
    JAMA 291:820-1; author reply 821. 2004
  54. ncbi Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    Tiina Tyni
    Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland
    Pediatr Res 56:744-50. 2004
    ..Reduced energy generation in the choroid plexus may contribute to the cerebral edema observed in patients with beta-oxidation defects...
  55. ncbi Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults
    Simon E Olpin
    Department of Clinical Chemistry, Sheffield Children s Hospital, Sheffield, S10 2TH, UK
    Clin Lab 51:289-306. 2005
    ..Novel treatments include the use of D,L-3-hydroxybutyrate and the potential use of fibrates to increase mutant protein levels in mild disorders...
  56. ncbi Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK
    Philippa Goddard
    Department of Clinical Chemistry, Birmingham Children s Hospital
    J Fam Health Care 14:90-2. 2004
    ..This article reviews the background to the introduction of the pilot programme and describes the features and complications of MCADD, including the diagnosis and management...
  57. ncbi Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
    Laura N Venditti
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Pediatrics 112:1005-15. 2003
    ....
  58. ncbi Expanding newborn screening: process, policy, and priorities
    Virginia A Moyer
    Baylor College of Medicine and Texas Children s Hospital, USA
    Hastings Cent Rep 38:32-9. 2008
    ..By the standards used to decide whether to introduce new preventive health services into clinical use, the decision-making in newborn screening policy has been lax...
  59. ncbi ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Brain 130:2045-54. 2007
    ..This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder...
  60. ncbi Medium-chain acyl-CoA dehydrogenase deficiency: a case presentation
    Darlene J Moore
    Emory University, Department of Pediatrics, Atlanta, GA 30365, USA
    Neonatal Netw 24:7-13. 2005
    ..Recognizing and treating this disorder early could decrease the morbidity and mortality associated with the diagnosis...
  61. ncbi Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?
    S Koppel
    Department of Neurology, Klinikum Nord Heidberg, Hamburg, Germany
    Neurology 67:1519. 2006
  62. ncbi Enzymes of fatty acid beta-oxidation in developing brain
    H Reichmann
    Department of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, New York
    J Neurochem 51:339-44. 1988
    ....
  63. ncbi Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies
    R Ziadeh
    Department of Human Genetics, University of Pittsburgh, Pennsylvania, USA
    Pediatr Res 37:675-8. 1995
    ..The different mutation frequencies observed between retrospective clinical studies and our prospective newborn screening study suggest that clinical ascertainment may lead to preferential identification of the A985G mutation...
  64. pmc Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation
    C Guerra
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    J Clin Invest 102:1724-31. 1998
    ..Genetic mapping of the trait placed the gene on chromosome 5 near Acads, a gene encoding the short chain acyl CoA dehydrogenase, which is mutated in BALB/cByJ mice...
  65. ncbi Newborn screening for metabolic disorders
    Susan E Waisbren
    JAMA 296:993-5. 2006
  66. ncbi So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager
    Michael W Beresford
    Department of Rheumatology, Royal Liverpool Children s NHS Trust, Eaton Road, L12 2AP, Liverpool, UK
    Neuromuscul Disord 16:269-73. 2006
    ..An outline of this rare but important disease, its clinical characteristics and diagnostic methodology are given...
  67. ncbi Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Sirikit Ho
    Division of Metabolic Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Clin Chem 53:1330-7. 2007
    ..Published diagnostic criteria for these disorders normally incorporate a primary metabolic marker combined with secondary markers, often analyte ratios, for which the markers have been chosen to reflect metabolic pathway deviations...
  68. ncbi Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JAMA 296:943-52. 2006
    ..Screening for SCADD is included in expanded newborn screening programs in most US and Australian states...
  69. ncbi Impact of the intramitochondrial enzyme organization on fatty acid oxidation
    X Liang
    Department of Chemistry, City College and Graduate School of the City University of New York, Convent Avenue at 138th Street, New York, NY 10031
    Biochem Soc Trans 29:279-82. 2001
    ..Altogether, a view is emerging of the organization of beta-oxidation enzymes in mitochondria that supports the idea of intermediate channelling and explains the apparent absence of true intermediates of beta-oxidation from mitochondria...
  70. ncbi Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD)
    E Rhoades
    Oklahoma State Department of Health, 1000 NE 10th Street, Oklahoma City, OK 73117, USA
    J Okla State Med Assoc 94:129-32. 2001
    ..The NMDSP has recommended that screening should be expanded, but issues of cost and the establishment of a sustainable infrastructure of comprehensive medical services must be addressed...
  71. ncbi Newborn screening and genetic testing
    Michele A Lloyd-Puryear
    Genetic Services Branch, Division of Services for Children With Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration, US Department of Health and Human Services, Rockville, MD 20857, USA
    J Obstet Gynecol Neonatal Nurs 31:200-7. 2002
    ..Nurses who care for infants and their families should be knowledgeable about those changes to correctly transmit information to families and to participate in determining policy for newborn screening practices...
  72. ncbi Mouse models for disorders of mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genomics and Pathobiology, School of Medicine, University of Alabama at Birmingham, AL, USA
    ILAR J 43:57-65. 2002
    ..It is expected that these mouse models will provide vital contributions in understanding the mechanisms of disease pathogenesis of fatty acid oxidation disorders and the development of appropriate treatments and supportive care...
  73. ncbi [Neonatal screening for metabolic diseases: need for efficacy studies]
    M Williams
    Erasmus MC Centrum, afd Kindergeneeskunde, Rotterdam
    Ned Tijdschr Geneeskd 152:1653-6. 2008
    ..Some of these patients might never have become ill and should thus not be treated. Further studies are needed to differentiate between these patients...
  74. ncbi Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency
    Darren J Fowler
    Lancet 359:628. 2002
  75. pmc Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry
    James V Leonard
    BMJ 324:4-5. 2002
  76. ncbi Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada
    Gabriella A Horvath
    Division of Biochemical Diseases, British Columbia Children s Hospital, Vancouver, BC
    Can J Public Health 99:276-80. 2008
    ..MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality...
  77. ncbi Lipid storage myopathies
    Claudio Bruno
    Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, Genova, Italy
    Curr Opin Neurol 21:601-6. 2008
    ..The aim of this review is to provide an update on disorders of lipid metabolism affecting skeletal muscle exclusively or predominantly and to summarize recent clinical, genetic, and therapeutic studies in this field...
  78. ncbi Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Aarhus, Denmark
    Hum Mutat 18:169-89. 2001
    ..However, it remains to be seen to what extent mutation analysis will be used for diagnosis of fatty acid oxidation defects and other metabolic disorders...
  79. pmc Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
    K Carpenter
    Biochemical Genetics Service, The Children s Hospital at Westmead, Sydney, Australia
    Arch Dis Child Fetal Neonatal Ed 85:F105-9. 2001
    ..To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients...
  80. ncbi The intraflavin hydrogen bond in human electron transfer flavoprotein modulates redox potentials and may participate in electron transfer
    T M Dwyer
    Department of Pediatrics, Cell and Developmental Biology Program, University of Colorado School of Medicine, Denver 80262, USA
    Biochemistry 38:9735-45. 1999
    ....
  81. ncbi Re-evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver disease
    Motoyuki Kohjima
    Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, 812 8582 Fukuoka, Japan
    Int J Mol Med 20:351-8. 2007
    ..Further studies will be needed to clarify how fatty acid synthesis is increased by SREBP-1c, which is under the control of insulin and AMP-activated protein kinase...
  82. ncbi Review: Metabolic cardiomyopathy and conduction system defects in children
    Enid Gilbert-Barness
    Department of Pathology, University of South Florida, Tampa General Hospital, Tampa, Florida 33601, USA
    Ann Clin Lab Sci 34:15-34. 2004
    ..Although the histological appearance of some of these disorders may be diagnostic, molecular analysis is necessary to define clearly the particular type of cardiomyopathy...
  83. ncbi [Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
    Lian Shu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Zhonghua Yi Xue Za Zhi 88:2122-6. 2008
    ..To investigate the effects of tandem mass spectrometry (MS/MS) combined with gas chromatography mass spectrometry (GC-MS) in the diagnosis of inborn errors of metabolism in children...
  84. ncbi [Changes of myocardial enzymes related to glycolysis and fatty acid metabolism in chronic myocardial ischemia: experiment with pigs]
    Jing Gong
    Department of Pathophysiology, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China
    Zhonghua Yi Xue Za Zhi 88:2209-13. 2008
    ....
  85. ncbi Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report
    L S Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, 200092, China
    J Inherit Metab Dis 30:507-14. 2007
    ..Fatty acid oxidation disorders are relatively rare in the Chinese, but medium-chain acyl-CoA dehydrogenase deficiency should be further investigated...
  86. ncbi Crystal structure of Paracoccus denitrificans electron transfer flavoprotein: structural and electrostatic analysis of a conserved flavin binding domain
    D L Roberts
    Department of Biochemistry, Medical College of Wisconsin, Milwaukee 53226, USA
    Biochemistry 38:1977-89. 1999
    ..denitrificans chimeric ETF protein, it is possible to identify one region of ETF that participates in docking with ETF-ubiquinone oxidoreductase, the physiological electron acceptor for ETF...
  87. ncbi Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
    Lap Kay Law
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N T, Hong Kong
    Clin Chim Acta 404:95-9. 2009
    ..Recently, mutations in ETFDH were found to be responsible for all riboflavin-responsive MADD patients. In this study, we present the clinical features and molecular studies of 2 Chinese families with riboflavin-responsive MADD...
  88. ncbi Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan
    Brain Dev 32:362-70. 2010
    ..Our approach is a simple and promising strategy to evaluate the effects of heat stress or therapeutic drugs on mitochondrial FAO...
  89. pmc Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy
    S Gobin-Limballe
    Universite Paris Descartes, Centre National de la Recherche Scientifique Biotram, Paris, France
    Am J Hum Genet 81:1133-43. 2007
    ..Finally, this study emphasizes the potential of bezafibrate, a widely prescribed hypolipidemic drug, for the correction of VLCAD deficiency and exemplifies the integration of molecular information in a therapeutic strategy...
  90. ncbi Dietary oxidized fat prevents ethanol-induced triacylglycerol accumulation and increases expression of PPARalpha target genes in rat liver
    Robert Ringseis
    Institut fur Ernahrungswissenschaften, Martin Luther Universitat Halle Wittenberg, D 06108 Halle Saale, Germany
    J Nutr 137:77-83. 2007
    ..This study shows that OF prevents an alcohol-induced triacylglycerol accumulation in rats possibly by upregulation of hepatic PPARalpha-responsive genes involved in oxidation of fatty acids, whereas CLA does not exert such an effect...
  91. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
    ..Whether this is due to lack of a substrate, inhibitory effects on other gluconeogenic enzymes or impaired transcription of gluconeogenic enzymes needs to be resolved in the future...
  92. ncbi A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation
    P Bross
    Research Unit for Molecular Medicine, Arhus University Hospital, Denmark
    Mol Genet Metab 67:138-47. 1999
    ....
  93. ncbi Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice
    Stuart G Beattie
    University of Massachusetts Medical School, Worcester, MA 01655, USA
    J Gene Med 10:1113-23. 2008
    ..Mice deficient for long chain acyl CoA dehydrogenase (LCAD) closely resemble the clinical syndrome observed in VLCAD-deficient humans...
  94. ncbi Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program
    T H Zytkovicz
    New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, 305 South St, Jamaica Plain, MA 02130, USA
    Clin Chem 47:1945-55. 2001
    ..Limited information is available for setting the marker cutoffs and for the resulting positive predictive values...
  95. ncbi [A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
    M Tojo
    Department of Pediatrics, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Handicapped Children
    No To Hattatsu 32:163-8. 2000
    We reported a male infant with multiple acyl CoA dehydrogenase deficiency, probably due to electron transfer flavoprotein dehydrogenase deficiency...
  96. ncbi Regional differences in porcine adipocytes isolated from skeletal muscle and adipose tissues as identified by a proteomic approach
    F Gondret
    Institut National de la Recherche Agronomique INRA, Unité Mixte de Recherches UMR 1079 Systèmes d Elevage Nutrition Animale et Humaine, Saint Gilles, 35590, France
    J Anim Sci 86:2115-25. 2008
    ..01), lipolysis (perilipin, P < 0.01), fatty acid oxidation (long-chain fatty-acyl CoA dehydrogenase, P < 0...
  97. ncbi Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism
    Eric S Goetzman
    Department of Pediatrics, School of Medicine, University of Pittsburgh, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Mol Genet Metab 87:233-42. 2006
    ..Lastly, competitive inhibition studies using the ETF fluorescence reduction assay suggested that SCAD E368G and IVD E254G do not effectively compete with the wild-type enzymes for the physiological electron acceptor ETF...
  98. ncbi Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Pediatr Res 67:304-8. 2010
    ..As our study could not demonstrate a clinically relevant effect of riboflavin, general use of riboflavin cannot be recommended...
  99. ncbi Newborn screening
    Bridget Wilcken
    The Children s Hospital, Westmead, Australia
    Pathology 40:104-15. 2008
    ..Newborn screening has entered a new and exciting phase, with an explosion of new treatments, new technologies, and, possibly in the future, new preventive strategies...
  100. ncbi Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase
    Vernat J Exil
    Division of Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 9119, USA
    Am J Physiol Heart Circ Physiol 290:H1289-97. 2006
    ..Our observations provide insights into the possible mechanisms of stress-induced death in human newborns with abnormal fat metabolism and elucidate targeting of specific substrates for particular metabolic needs...
  101. ncbi Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids
    Regina Ensenauer
    Department of Medical Genetics, Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Biol Chem 280:32309-16. 2005
    ..Because of the substrate specificity and abundance of ACAD-9 in brain, we speculate that it may play a role in the turnover of lipid membrane unsaturated fatty acids that are essential for membrane integrity and structure...

Research Grants55

  1. Regulation of mitochondrial metabolism by lysine acetylation
    Eric S Goetzman; Fiscal Year: 2013
    ....
  2. Structure and Function of Enzymes in Fatty Acid Oxidation
    JUNG JA P KIM; Fiscal Year: 2013
    ....
  3. Mitochondrial chaperones mortalin and Tid1 in protein degradation
    Carolyn K Suzuki; Fiscal Year: 2012
    ....
  4. Development of Chemical Chaperonin for Medium Chain Acyl-CoA Dehydrogenase Defici
    AL WALID ABDEL MOHSEN; Fiscal Year: 2010
    ....
  5. A MOUSE MODEL FOR HUMAN INHERITED DISEASES
    Philip A Wood; Fiscal Year: 2010
    ..The results of these studies could have wide ranging impact on understanding the underlying bases of many other inherited diseases. ..
  6. Proteomic profiling of NASH: disease mechanisms and novel treatment
    DENNIS PETERSEN; Fiscal Year: 2011
    ..Experiments are proposed using the candidate proteins, long-chain acyl CoA dehydrogenase and the ER stress modulator GRP78 to evaluate the functional consequences of protein modification by 4-HNE ..
  7. Metabolism of Short Chain Acyl-CoA and its Deficiency
    Gerard Vockley; Fiscal Year: 2013
    ..We have also identified a possible new genetic disorder caused by a deficiency of these proteins. Understanding the functions of these proteins will give us better tools to diagnose and treat these disorders. ..
  8. Regulation of energy metabolism in the failing heart
    Raymond Russell; Fiscal Year: 2005
    ..The findings of these studies will help to characterize the defects in energy metabolism in the failing heart and aid in the design of therapies that improve energy transduction in the failing human heart. ..
  9. GASTROINTESTINAL PROTEINS--CELL AND MOLECULAR REGULATION
    Jeffrey Gordon; Fiscal Year: 2000
    ..antichymotrypsin (project 4), liver and intestinal fatty acid binding proteins (project 5), and long chain acyl CoA dehydrogenase (project 6)...
  10. RIBOFLAVIN AND FLAVOPROTEIN GENE EXPRESSION
    NATHAN ROSS; Fiscal Year: 1993
    ....
  11. MITOCHONDRIAL SHORT CHAIN 3-OH-ACYL-COA DEHYDROGENASES
    Arnold Strauss; Fiscal Year: 2003
    ..These studies will augment understanding of the pathogenesis of fatty acid oxidation disorders causing acute liver failure, cardiomyopathy, and sudden death in children. ..
  12. RESONANCE RAMAN PROBE STUDIES OF FLAVOPROTEINS
    JAMES MC FARLAND; Fiscal Year: 1980
    ..Raman spectroscopy on fatty acyl CoA dehydrogenase has proven important in investigation of hydrogen bonding between the N-3 hydrogen on the FAD and the ..
  13. INBORN ERRORS OF REDOX PROTEINS--GLUTARIC ACIDEMIA II
    Stephen Goodman; Fiscal Year: 1990
    ..coli, in order to address specific hypotheses about how the primary amino acid structure of these proteins influences their function...
  14. Fatty Acid Oxidation Disorders & Body Weight Regulation
    MELANIE GILLINGHAM; Fiscal Year: 2009
    ..Results from these studies will enhance our understanding of the role of FAO in body composition and insulin resistance, and may provide a new dietary treatment to prevent obesity in children with long-chain FAO disorders. ..
  15. CHARACTERIZATION & THERAPY OF NEW FAT OXIDATION DEFECTS
    Charles Roe; Fiscal Year: 1991
    ..The major objectives, therefore, are to characterize and demonstrate new defects of fat oxidation and to investigate a potential therapy...
  16. Ethical Decision-Making for Newborn Genetic Screening
    Thomas Murray; Fiscal Year: 2004
    ..Through a subcontract, the March of Dimes will provide technical assistance on scientific and clinical issues and work with the Hastings Center to disseminate the project results. ..
  17. MOLECULAR BASIS DISORDERS OF BRANCHED CHAIN AMINO ACIDS
    Kay Tanaka; Fiscal Year: 1991
    ..study of various acyl dehydrogenases and disorders due to the deficient activity of these enzymes (human acyl CoA dehydrogenase mutants) such as isovaleric acidemia, glutaric aciduria type II, and ethylmalonic-adipic aciduria are the ..
  18. A Disease Causing Mutation in Acyl-CoA Dehydogenase
    D Srivastava; Fiscal Year: 2001
    ..abstract_text> ..
  19. Substrate Recognition and Activation in Beta-Oxidation
    Peter Tonge; Fiscal Year: 2004
    ....
  20. AUTOMATED DNA TESTING FOR SCREENING AND DIAGNOSIS
    Edward McCabe; Fiscal Year: 1992
    ..Application of this automated technology to basic research will improve the cost-effectiveness of genetic analyses for laboratory investigations in prokaryotic and eukaryotic systems...
  21. Attentional Dysfunction in Children with Phenylketonuria
    Georgianne Arnold; Fiscal Year: 2008
    ....
  22. Diet treatment of Galactosemic Infants: A Pilot Study
    Can Ficicioglu; Fiscal Year: 2007
    ..Evidence from this study may have a future impact on how newborn galactosemics are treated with a potential for moderating long-term complications. [unreadable] [unreadable]..
  23. Diet Therapy of Long-Chain Fatty Acid Oxidation Defects
    MELANIE GILLINGHAM; Fiscal Year: 2005
    ..abstract_text> ..
  24. Alcohol abuse in a small rodent neuroAIDS model
    Johnny He; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  25. MOLECULAR BASIS OF A NEW FORM OF HYPERINSULINISM
    CHARLES ALFRED STANLEY; Fiscal Year: 2010
    ....
  26. Effects of ethanol on AMP kinase signaling
    David Crabb; Fiscal Year: 2008
    ..It may also shed light on the pathogenesis of non-alcoholic fatty liver disease. [unreadable] [unreadable] [unreadable]..
  27. Ped Endocrine Career Development in Diabetes Research
    Charles Stanley; Fiscal Year: 2007
    ..The Program is strongly supported by access to a superb range of institutional resources, including the CHOP GCRC and the UPenn DERC. Request is made for 2 Appointee slots in this Program each year. ..
  28. Effects of Psychological Stress on the Stratum Corneum
    Kenneth Feingold; Fiscal Year: 2008
    ..Aim 4: To determine if the abnormalities in permeability barrier homeostasis and SC integrity/ cohesion induced by GC treatment in humans, are due to the inhibition of epidermal lipid synthesis. ..
  29. Stratum Corneum Acidification in the Neonate
    Kenneth Feingold; Fiscal Year: 2007
    ..4) To determine if activators of PPAR alpha, PPAR delta, and/or LXR accelerate the formation of an acidic SC, the mechanism for this acceleration of acidification, and the functional consequences of such an acceleration. ..
  30. Meeting:Society for Integrative and Comparative Biology
    Neil Blackstone; Fiscal Year: 2004
    ..Ultimately, this work will allow the power of genomics to be fully realized in biology and medicine. ..
  31. REGULATION OF HEPATOCELLULAR FUNCTION BY GROWTH HORMONE
    Susan Berry; Fiscal Year: 2002
    ..1 gene expression, defining the IL-6 response element and the nuclear factors binding to Spi 2.1 in response to IL-6 with comparison to the GH response, thereby furthering understanding of the specificity of the Spi 2.1 response to GH. ..
  32. Regulation of Skeletal Muscle LKB1
    WILLIAM WINDER; Fiscal Year: 2010
    ..The proposed studies will provide additional rationale for convincing a predominantly sedentary population of the importance of regular exercise in combating inactivity-related diseases. ..
  33. Physiology of Malonyl-CoA in Muscle during Exercise
    WILLIAM WINDER; Fiscal Year: 2006
    ..The results will provide additional rationale for the use of regular exercise in preventing and treating type 2 diabetes and obesity. ..
  34. Biochemical and Metabolic Properties of 10-HETE
    ARTHUR SPECTOR; Fiscal Year: 2006
    ..The ultimate goal of this project is to provide the additional mechanistic insight necessary to develop new therapeutic approaches to overcome the pathological actions of 20-HETE. ..
  35. Anaplerotic therapy in Propionic Acidemia
    Nicola Longo; Fiscal Year: 2008
    ..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
  36. The Electrochemistry of Diheme Cytochrome c Peroxidases
    Sean J Elliott; Fiscal Year: 2010
    ..Further, our study of triheme CCPs will elucidate the CCP machinery which is unique to pathogens such as Salmonella enterica and Yersinia pestis, providing new insights into their biochemical pathways. ..
  37. MEVALONATED METABOLIZING ENZYMES & THEIR INBORN DEFECTS
    Jung Ja Kim; Fiscal Year: 2003
    ..3) High resolution structures of rat and human mevalonate kinases will be determined by X-ray crystallography. (4) Human mevalonate kinase mutants will be modeled to determine the molecular basis for mevalonic aciduria. ..
  38. Gene delivery to striated muscle by systemic AAV vectors
    Dwight D Koeberl; Fiscal Year: 2010
    ..Efficacious muscle-targeted gene therapy in GSD-II will have implications for gene therapy in other muscular dystrophies and myopathies. ..
  39. MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROME
    Richard Boles; Fiscal Year: 2002
    ..An extensive amount of clinical and laboratory data will be collected in all patients, allowing for the comparison of CVS sufferers with and without mtDNA mutations. ..
  40. GLUCOSE UTILIZATION IN SENESCENT HEARTS
    Rong Tian; Fiscal Year: 2002
    ..Aim 4: To test the hypothesis that presence of high glucose and insulin increase glucose utilization and improves the tolerance toischemia in senescent hearts. ..
  41. ETHANOL OXIDATION IN GENETICALLY MODIFIED CELLS
    David Crabb; Fiscal Year: 2002
    ..This study should answer the question of how the presence of different isozymes of ADH modulates alcohol metabolic rates and intracellular acetaldehyde. ..
  42. Mechanisms for immune tolerance in Pompe Disease
    Dwight D Koeberl; Fiscal Year: 2010
    ..These comparisons will guide preclinical experiments to further immunomodulatory gene therapy in Pompe disease and other lysosomal storage disorders. ..
  43. REGULATION OF EXPRESSION OF ALDH2
    David Crabb; Fiscal Year: 2003
    ..These studies should further our understanding of the tissue-specific control of ALDH2 and the potential that dietary factors have on its expression. ..
  44. International Medical Conference of Congenital Hyperinsulinism
    Charles Stanley; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  45. Austin 5HT Candidate Gene Discovery with C Elegans
    J Jay Gargus; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  46. EXPANDED NEWBORN SCREENING FOR METABOLIC DISORDERS
    Susan Waisbren; Fiscal Year: 2006
    ..Primary data from parent interviews and the New England Newborn Screening Program, as well as secondary data from published reports and a panel of experts will be used as inputs to the cost-effectiveness model. [unreadable] [unreadable]..
  47. PPARs and LXR Regulate Epidermal Differentiation
    Kenneth Feingold; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  48. ISLET DYSREGULATION IN INFANTS
    Charles Stanley; Fiscal Year: 2008
    ..The results of this research will provide essential information for improving the diagnosis and treatment of HI children and for understanding the basis of insulin regulation in normal humans. ..
  49. Genetically Optimized Adipocyte Omega-3 Fatty Acids
    Philip Wood; Fiscal Year: 2004
    ..This unique model will allow specific evaluation of the benefits adipocytes with optimal concentrations of omega-3 fatty acids, without the confounding factors of diet. ..
  50. Structure/Mechanism of an FMN- and FAD-containing Enzyme
    Jung Ja Kim; Fiscal Year: 2005
    ..To determine the structural basis for these differences, it is proposed to determine the crystal structures of (4) the flavin domains and (5) their variants of the three NOSs, containing their respective Ca++/CaM-binding regions. ..
  51. METABOLISM AND TOXICITY OF HALOGENATED HYDROCARBONS
    MARION ANDERS; Fiscal Year: 2004
    ..Hence, DCA may also find use in the management of HT-1. It is, therefore, important to explore the mechanism by which DCA and other dihaloacetates inactivate GSTZ1-1. ..
  52. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2010
    ....