medium chain acyl CoA dehydrogenase

Summary

Gene Symbol: medium chain acyl CoA dehydrogenase
Description: acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Alias: ACAD1, MCAD, MCADH, medium-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, testicular tissue protein Li 7
Species: human

Top Publications

  1. 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
  2. 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
  3. doi Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants
    J M Khalid
    UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    J Med Screen 15:112-7. 2008
  4. ncbi Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts
    W J Rhead
    Science 221:73-5. 1983
  5. ncbi The transcriptional coactivator PGC-1 regulates the expression and activity of the orphan nuclear receptor estrogen-related receptor alpha (ERRalpha)
    Sylvia N Schreiber
    Division of Biochemistry, Biozentrum of the University of Basel, Klingelbergstrasse 70, CH 4056 Basel, Switzerland
    J Biol Chem 278:9013-8. 2003
  6. pmc Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
    I Yokota
    Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510
    Am J Hum Genet 49:1280-91. 1991
  7. pmc Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency
    D P Kelly
    Department of Internal Medicine, Washington University School of Medicine, Saint Louis, MO 63110
    Proc Natl Acad Sci U S A 87:9236-40. 1990
  8. ncbi Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
    Y Matsubara
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Biochem Biophys Res Commun 171:498-505. 1990
  9. 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
  10. 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

Research Grants

  1. JUNG JA P KIM; Fiscal Year: 2015
  2. Eric S Goetzman; Fiscal Year: 2016
  3. Development of Chemical Chaperonin for Medium Chain Acyl-CoA Dehydrogenase Defici
    AL WALID ABDEL MOHSEN; Fiscal Year: 2010
  4. INBORN ERRORS OF REDOX PROTEINS--GLUTARIC ACIDEMIA II
    Stephen Goodman; Fiscal Year: 1990
  5. Ethical Decision-Making for Newborn Genetic Screening
    Thomas Murray; Fiscal Year: 2004
  6. A Disease Causing Mutation in Acyl-CoA Dehydogenase
    D Srivastava; Fiscal Year: 2001
  7. AUTOMATED DNA TESTING FOR SCREENING AND DIAGNOSIS
    Edward McCabe; Fiscal Year: 1992
  8. INHERITED DISORDERS OF OXIDATIVE METABOLISM IN MAN
    William Rhead; Fiscal Year: 1991
  9. Gene Therapy for Lung and Cardiovascular Disease
    Nicholas Muzyczka; Fiscal Year: 2012
  10. HTS of Compounds Modulating PGC-1a Acetylation and Oxidative Metabolic Function
    Pere Puigserver; Fiscal Year: 2012

Detail Information

Publications206 found, 100 shown here

  1. 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...
  2. 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...
  3. doi Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants
    J M Khalid
    UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    J Med Screen 15:112-7. 2008
    ..We estimated ethnic-specific homozygous c.985A>G MCADD birth prevalence from a large-scale UK newborn screening study...
  4. ncbi Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts
    W J Rhead
    Science 221:73-5. 1983
    ..These data confirm that dicarboxylic aciduria is caused by an enzyme defect in the beta-oxidation cycle...
  5. ncbi The transcriptional coactivator PGC-1 regulates the expression and activity of the orphan nuclear receptor estrogen-related receptor alpha (ERRalpha)
    Sylvia N Schreiber
    Division of Biochemistry, Biozentrum of the University of Basel, Klingelbergstrasse 70, CH 4056 Basel, Switzerland
    J Biol Chem 278:9013-8. 2003
    ..or of PGC-1 mutants that interact selectively with different types of nuclear receptors, shows that PGC-1 can induce the fatty acid oxidation enzyme MCAD (medium-chain acyl-coenzyme A dehydrogenase) in an ERRalpha-dependent manner.
  6. pmc Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
    I Yokota
    Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510
    Am J Hum Genet 49:1280-91. 1991
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty-acid oxidation that is characterized by fasting intolerance and recurrent episodes of hypoglycemic coma which can be fatal...
  7. pmc Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency
    D P Kelly
    Department of Internal Medicine, Washington University School of Medicine, Saint Louis, MO 63110
    Proc Natl Acad Sci U S A 87:9236-40. 1990
    Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a common inherited defect in energy metabolism...
  8. ncbi Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
    Y Matsubara
    Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Biochem Biophys Res Commun 171:498-505. 1990
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man...
  9. 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
    We sequenced polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient patients...
  10. 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
    Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids...
  11. 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
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of mitochondrial beta-oxidation. It is potentially fatal, but shows a wide clinical spectrum...
  12. 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
    Medium-chain acyl-CoA dehydrogenase (MCADH) deficiency, an autosomal recessive inherited disorder, is the most common genetic disorder in mitochondrial beta-oxidation in humans...
  13. ncbi Molecular and functional characterisation of mild MCAD deficiency
    J Zschocke
    Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Hum Genet 108:404-8. 2001
    ..Enzyme studies showed residual MCAD activities between "classical" MCADD and heterozygotes...
  14. 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
    Patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are unable to metabolize medium-chain fatty acids...
  15. 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...
  16. 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
    Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation...
  17. 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
    Two novel rare mutations, MCAD approximately 842G-->C (R256T) and MCAD approximately 1166A-->G (K364R), have been investigated to assess how far the biochemical properties of the mutant proteins correlate with the clinical phenotype ..
  18. doi 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
    The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005...
  19. doi 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...
  20. doi A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University, Faculty of Medicine, 89 1 Enya, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 96:77-9. 2009
    ..This study suggests the genotypic difference between those of Caucasians and Japanese regarding MCADD...
  21. pmc A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns
    Frank ter Veld
    Department of General Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    PLoS ONE 4:e6449. 2009
    Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid ..
  22. doi Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
    Emily H Smith
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Mol Genet Metab 100:241-50. 2010
    Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses...
  23. pmc Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants
    Marga Sturm
    Department of General Pediatrics, University Childrens Hospital, Dusseldorf, Germany
    PLoS ONE 7:e45110. 2012
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism...
  24. ncbi Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
    K Tanaka
    Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510
    Hum Mutat 1:271-9. 1992
    Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids...
  25. 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
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial beta-oxidation defect, and it is potentially fatal...
  26. pmc Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
    Esther M Maier
    Department of Molecular Pediatrics, Children s Research Center, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mol Genet 18:1612-23. 2009
    ..Finally, the detailed insight into how ACADM missense mutations induce loss of MCAD function may provide guidance for risk assessment and counseling of patients, and in future may assist delineation ..
  27. 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
    ..tandem mass spectrometry newborn screening is the potentially fatal medium-chain acyl-CoA dehydrogenase deficiency (MCAD). In clinically presenting cases, 80% are homozygous for the common mutation, c.985A > G and 18% heterozygous...
  28. 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
    ....
  29. ncbi Oxidase activity of the acyl-CoA dehydrogenases
    E R DuPlessis
    Department of Chemistry and Biochemistry, University of Delaware, Newark 19716, USA
    Biochemistry 37:10469-77. 1998
    ..Evolutionary and mechanistic aspects of the suppression of oxygen reactivity in the acyl-CoA dehydrogenases are discussed...
  30. ncbi L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study
    P J Lee
    Department of Child Health, St George s Hospital Medical School, London, UK
    J Inherit Metab Dis 28:141-52. 2005
    Skeletal muscle function may be impaired in patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, but the value of L-carnitine in their long-term management is not clear...
  31. ncbi Structural characterization of the mouse long-chain acyl-CoA dehydrogenase gene and 5' regulatory region
    D M Kurtz
    Department of Comparative Medicine, Volker Hall, Room 401, Schools of Medicine and Dentistry, The University of Alabama at Birmingham, Birmingham, Alabama 35294 0019, USA
    Mamm Genome 9:361-5. 1998
    ..dehydrogenase (Acad or ACAD) gene family of enzymes, which also includes very-long-chain (VLCAD), medium-chain (MCAD), and short-chain (SCAD) acyl-CoA dehydrogenases...
  32. ncbi Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases
    Kevin P Battaile
    Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    J Biol Chem 277:12200-7. 2002
    ..Ten reported pathogenic human mutations and two polymorphisms have been mapped onto the structure of short chain acyl-CoA dehydrogenase. None of the mutations directly affect the binding cavity or intersubunit interactions...
  33. 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...
  34. ncbi [L-carnitine and cardiac metabolism and remodeling indices in alcoholic cardiomyopathy]
    Ling Jing
    Department of Cardiology, the First Clinical Hospital of Haerbin Medical University, Haerbin 150001, China
    Zhonghua Nei Ke Za Zhi 47:934-7. 2008
    ..To observe the preventive and therapeutic effects of L-carnitine on the metabolic disorder and cardiac remodeling in alcoholic cardiomyopathy...
  35. pmc Electron transfer flavoprotein domain II orientation monitored using double electron-electron resonance between an enzymatically reduced, native FAD cofactor, and spin labels
    Michael A Swanson
    Department of Chemistry and Biochemistry, University of Denver, Denver, Colorado 80208, USA
    Protein Sci 20:610-20. 2011
    ..These distances suggest that the αII domain adopts orientations in solution that are intermediate between those which are observed in the crystal structures of free ETF (closed) and ETF bound to a dehydrogenase (open)...
  36. pmc Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase
    Ryan P McAndrew
    Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    J Biol Chem 283:9435-43. 2008
    ..400 residues of VLCAD is similar to that of the soluble ACADs including medium-chain acyl-CoA dehydrogenase (MCAD)...
  37. ncbi Mutation of Tyr375 to Lys375 allows medium-chain acyl-CoA dehydrogenase to acquire acyl-CoA oxidase activity
    Jia Zeng
    Department of Biology and Chemistry, City University of Hong Kong, 83 Tat Chee Avenue, Kowloon, Hong Kong SAR, PR China Department of Bioengineering, School of Resources Processing and Bioengineering, Central South University, Changsha 410083, PR China
    Biochim Biophys Acta 1774:1628-34. 2007
    Medium-chain acyl-CoA dehydrogenase (MCAD) and acyl-CoA oxidase (ACO) are key enzymes catalyzing the rate-determining step for the beta-oxidation of fatty acids...
  38. ncbi Inhibition of very long chain acyl-CoA dehydrogenase during cardiac ischemia
    Katherine E Mason
    Division of Pediatric Pharmacology and Critical Care, Department of Pediatrics, Rainbow Babies and Children s Hospital, Cleveland, OH, USA
    Arch Biochem Biophys 437:138-43. 2005
    ..However, the dramatic increase in mitochondrial state 4 respiration would be predicted to accentuate the imbalance between energy production and utilization...
  39. ncbi Tissue specific and developmental expression of rat long-and medium-chain acyl-CoA dehydrogenases
    B E Hainline
    Department of Pediatrics, Indiana University School of Medicine, Indianapolis 46202 5225
    Biochim Biophys Acta 1216:460-8. 1993
    ..tissue distribution and developmental profile of the rat long- and medium-chain acyl-CoA dehydrogenase (LCAD and MCAD) mRNAs were compared...
  40. 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
    ..proteins, thus supporting a previous docking model between human ETF and pig medium-chain acyl-CoA dehydrogenase (MCAD). Analysis of the ionic strength dependence of the electron transfer reaction between either human or P...
  41. doi Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy
    C M Westermann
    Department of Equine Sciences, Medicine Section, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 114, 3508 TD Utrecht, The Netherlands
    Neuromuscul Disord 18:355-64. 2008
    ....
  42. 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...
  43. doi FT-IR spectroscopic studies on the molecular mechanism for substrate specificity/activation of medium-chain acyl-CoA dehydrogenase
    Yasuzo Nishina
    Department of Physiology, School of Health Sciences, Kumamoto University, Kuhonji, Kumamoto 862 0976, Japan
    J Biochem 146:351-7. 2009
    ..Although 8-NH(2)-FAD-MCAD did not oxidize acyl-CoA the wavelength of the absorption maximum of the flavin was altered by acyl-CoAs binding...
  44. 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...
  45. 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...
  46. doi Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data
    Tim Van den Bulcke
    i ICT, University Hospital Antwerp, Wilrijkstraat 10, Edegem, Belgium
    J Biomed Inform 44:319-25. 2011
    ..The results indicate the potential value of data mining methods as a diagnostic support tool...
  47. pmc Feeding oxidized fat during pregnancy up-regulates expression of PPARalpha-responsive genes in the liver of rat fetuses
    Robert Ringseis
    Institut fur Agrar und Ernahrungswissenschaften, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
    Lipids Health Dis 6:6. 2007
    ....
  48. pmc Combined quantum mechanical and molecular mechanical simulations of one- and two-electron reduction potentials of flavin cofactor in water, medium-chain acyl-CoA dehydrogenase, and cholesterol oxidase
    Sudeep Bhattacharyya
    Department of Chemistry and Supercomputing Institute, University of Minnesota, 207 Pleasant Street SE, Smith Hall, Minneapolis, Minnesota 55455 0431, USA
    J Phys Chem A 111:5729-42. 2007
    ..In this article, we report computations of the reduction potentials of FAD in medium-chain acyl-CoA dehydrogenase (MCAD) and cholesterol oxidase (CHOX)...
  49. ncbi A single arginine residue is required for the interaction of the electron transferring flavoprotein (ETF) with three of its dehydrogenase partners
    Antony R Parker
    Department of Biochemistry, University College Dublin, Belfield, Dublin, Ireland
    Mol Cell Biochem 254:91-100. 2003
    ..reagents resulted in the loss, to varying degrees, of activity with medium chain acyl-coenzyme A dehydrogenase (MCAD). The kinetic profiles showed the inactivations followed pseudo-first-order kinetics for all reagents used...
  50. pmc Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate
    J J Kim
    Department of Biochemistry, Medical College of Wisconsin, Milwaukee 53226
    Proc Natl Acad Sci U S A 90:7523-7. 1993
    ..Lys-304, the prevalent mutation site found in patients with medium-chain acyl-CoA dehydrogenase deficiency, is located approximately 20 A away from the active site of the enzyme...
  51. pmc The orphan nuclear receptor estrogen-related receptor alpha is a transcriptional regulator of the human medium-chain acyl coenzyme A dehydrogenase gene
    R Sladek
    Molecular Oncology Group, Royal Victoria Hospital, Montreal, Quebec, Canada
    Mol Cell Biol 17:5400-9. 1997
    ..An ERRE is present in the 5'-flanking region of the gene encoding medium-chain acyl coenzyme A dehydrogenase (MCAD), a key enzyme involved in the mitochondrial beta-oxidation of fat...
  52. doi Role of the PGC-1 family in the metabolic adaptation of goldfish to diet and temperature
    Christophe M R LeMoine
    Department of Biology, Queen s University, Kingston, ON K7L 3N6, Canada
    J Exp Biol 211:1448-55. 2008
    ..the NRF-1 axis, whereas PGC-1alpha was the better predictor of the PPAR axis (PPARalpha, PPARbeta, medium chain acyl CoA dehydrogenase)...
  53. 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
    ....
  54. ncbi California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry
    Lisa Feuchtbaum
    Genetic Disease Branch, California Department of Health Services, Richmond, CA 94804, USA
    Pediatrics 117:S261-9. 2006
    ..This article outlines the Genetic Disease Branch approach to implementing the MS/MS pilot program and the program evaluation strategies used...
  55. ncbi Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis
    C M Westermann
    Department of Equine Sciences, Medicine Section, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 112, P O Box 80 152, 3508 TD Utrecht, The Netherlands
    Mol Genet Metab 91:362-9. 2007
    ..tissue showed deficiencies of short-chain acyl-CoA dehydrogenase (SCAD), medium-chain acyl-CoA dehydrogenase (MCAD), and isovaleryl-CoA dehydrogenase (IVD) also indicating MADD...
  56. ncbi Induction of peroxisome proliferator-activated receptor alpha (PPARalpha)-related enzymes by di(2-ethylhexyl) phthalate (DEHP) treatment in mice and rats, but not marmosets
    Yuki Ito
    Department of Occupational and Environmental Health, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, 466 8550, Japan
    Arch Toxicol 81:219-26. 2007
    ..investigated the inductions of PPARalpha and its target genes (mitochondrial medium-chain acyl-CoA dehydrogenase (MCAD) and peroxisomal keto-acyl-CoA thiolase (PT) in liver from mice (CD-1), rats (Sprague-Dawley), and marmosets (..
  57. 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
    Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome...
  58. pmc Transcriptional regulation by glucocorticoids of mitochondrial oxidative enzyme genes in the developing rat kidney
    F Djouadi
    INSERM U319, Universite Paris 7, France
    Biochem J 315:555-62. 1996
    ..We therefore studied the changes in the steady-state levels of mRNA encoding medium-chain acyl-CoA dehydrogenase (MCAD), which catalyses the initial step in mitochondrial fatty acid beta-oxidation, in the rat kidney cortex and medulla ..
  59. doi Regulation of cardiac fatty acids metabolism in transgenic mice overexpressing bovine GH
    Fausto Bogazzi
    Department of Endocrinology and Metabolism, University of Pisa, Ospedale Cisanello, Pisa, Italy
    J Endocrinol 201:419-27. 2009
    ..In conclusion, chronic GH excess increased FA metabolism in the young age, whereas its action was overwhelmed in elder ages likely by GH-independent mechanisms, leading to reduced expression of key enzyme of FA metabolism...
  60. 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
    ..prevalent mutations are known in four genes of the fatty acid oxidation: the medium-chain acyl-CoA dehydrogenase (MCAD) gene; the short-chain acyl-CoA dehydrogenase (SCAD) gene; the long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) ..
  61. ncbi [Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
    T G Derks
    Sectie Metabole Ziekten, Academisch Ziekenhuis, Beatrix Kinderkliniek, Postbus 30 001, 9700 RB Groningen
    Ned Tijdschr Geneeskd 148:2185-90. 2004
    ..of Friesland, Groningen, Drenthe and Overijssel neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has been added to the regular newborn screening programme for phenylketonuria, congenital ..
  62. doi Coverage of the Victorian newborn screening programme in 2003: a retrospective population study
    Alice M Jaques
    Public Health Genetics, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    J Paediatr Child Health 44:498-503. 2008
    ..To assess the coverage of the newborn screening (NBS) program in Victoria, Australia, and identify potential predictors of not being screened...
  63. ncbi Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein
    Helen S Toogood
    Department of Biochemistry, University of Leicester, Henry Wellcome Building, Lancaster Road, LE1 7RH, Leicester United Kingdom
    J Biol Chem 280:30361-6. 2005
    ..ETF Glu-165beta plays a key role in stabilizing positions incompatible with fast interprotein electron transfer, thus ensuring high rates of complex dissociation...
  64. doi Progressive cerebral vascular degeneration with mitochondrial encephalopathy
    Nicola Longo
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 146:361-7. 2008
    ..Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess ..
  65. ncbi Chromosomal mapping and quantitative analysis of estrogen-related receptor alpha-1, estrogen receptors alpha and beta and progesterone receptor in the bovine mammary gland
    E E Connor
    Bovine Functional Genomics Laboratory, USDA ARS, Beltsville, Maryland 20705, USA
    J Endocrinol 185:593-603. 2005
    ..Our results demonstrate the presence of ERalpha, PR and ERRalpha during all physiological stages, and suggest a functional role for ERRalpha and a relative lack of a role for ERbeta in bovine mammary gland development and lactation...
  66. ncbi Suppression of estrogen-related receptor alpha and medium-chain acyl-coenzyme A dehydrogenase in the acute-phase response
    Min Sun Kim
    Department of Medicine, University of California San Francisco, and Metabolism Section, Department of Veterans Affairs Medical Center, San Francisco, CA 94121, USA
    J Lipid Res 46:2282-8. 2005
    ..Therefore, we investigated whether the APR affects the expression of medium-chain acyl-coenzyme A dehydrogenase (MCAD), its regulator the estrogen-related receptor alpha (ERRalpha), and a key coactivator of ERRalpha, the peroxisome ..
  67. doi Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of organic acidurias and biomarker discovery
    Konstantinos A Kouremenos
    Australian Centre for Research on Separation Science, School of Applied Sciences, R M I T University, GPO Box 2476 V, Melbourne, Victoria 3001, Australia
    J Chromatogr A 1217:104-11. 2010
    ..This study illustrates the potential of GCxGC-ToFMS for the diagnosis of organic acidurias and detailed analysis of the complex profiles that are often associated with these disorders...
  68. ncbi Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency
    H Arakawa
    School of Pharmaceutical Sciences, Showa University, Tokyo, Japan
    J Chromatogr A 680:517-23. 1994
    ..most prevalent mutation (lysine329-to-glutamic acid substitution) in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency...
  69. ncbi Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria
    T J Corydon
    Institute of Human Genetics, Wilhelm Meyers Alle, Aarhus University, DK 8000 Aarhus C, Denmark
    J Biol Chem 273:13065-71. 1998
    ....
  70. doi Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 99:263-8. 2010
    Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism...
  71. ncbi Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency
    Y Indo
    Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut 06510
    Pediatr Res 30:211-5. 1991
    ..If this is the case, it should be possible to devise a molecular diagnostic method for LCAD deficiency...
  72. ncbi Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
    S I Goodman
    Department of Pediatrics, University of Colorado School of Medicine, Denver, USA
    Hum Mol Genet 4:1493-8. 1995
    ..Human glutaryl-CoA dehydrogenase shows 53% sequence similarity to porcine medium chain acyl-CoA dehydrogenase, and these similarities were utilized to predict structure-function relationships in glutaryl-CoA dehydrogenase...
  73. ncbi Functional role of the active site glutamate-368 in rat short chain acyl-CoA dehydrogenase
    K P Battaile
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Biochemistry 35:15356-63. 1996
    ..The position of the catalytic glutamate, identified as Glu376 in porcine medium chain acyl-CoA dehydrogenase (MCAD), Glu254 in human isovaleryl-CoA dehydrogenase (IVD), and Glu261 in human long chain acyl-CoA dehydrogenase (LCAD), ..
  74. pmc Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry
    P T Clayton
    Institute of Child Health, University College London, UK
    Arch Dis Child 79:109-15. 1998
    To establish criteria for the diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in the UK population using a method in which carnitine species eluted from blood spots are butylated and analysed by electrospray ionisation ..
  75. ncbi Peroxisome proliferator-activated receptor alpha-mediated pathways are altered in hepatocyte-specific retinoid X receptor alpha-deficient mice
    Y J Wan
    Department of Pathology, Harbor UCLA Medical Center, Torrance, California 90509, USA
    J Biol Chem 275:28285-90. 2000
    ..These data suggested that in comparison to PPARalpha, hepatocyte RXRalpha has its unique role in lipid homeostasis and that the effect of RXRalpha, -beta, and -gamma is redundant in certain aspects...
  76. ncbi Metabolic cause of Reye-like syndrome
    V Bzduch
    1st Department of Pediatry, Department of Clinical Biochemistry, Hospital for Children, Limbova 1, SK 833 40 Bratislava, Slovakia
    Bratisl Lek Listy 102:427-9. 2001
    The most frequent metabolic cause of Reye-like syndrome is medium chain acyl-CoA dehydrogenase (MCAD) deficiency...
  77. 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
    Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the beta-oxidation of medium-chain fatty acids. Mutations in MCAD may cause disease in humans...
  78. ncbi Dietary soya protein intake and exercise training have an additive effect on skeletal muscle fatty acid oxidation enzyme activities and mRNA levels in rats
    Masashi Morifuji
    Meiji Seika Kaisha Ltd, Food and Health R and D Laboratories, 5 3 1 Chiyoda, Sakado shi, Saitama 350 0289, Japan
    Br J Nutr 96:469-75. 2006
    ....
  79. doi Enhanced acyl-CoA dehydrogenase activity is associated with improved mitochondrial and contractile function in heart failure
    Julie H Rennison
    Department of Physiology and Biophysics, School of Medicine E553, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4970, USA
    Cardiovasc Res 79:331-40. 2008
    ..The aim of the present study was to investigate possible mechanisms by which high fat feeding improved mitochondrial and contractile function in heart failure...
  80. 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
    ..prior to the introduction of neonatal screening, namely galactosaemia and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  81. ncbi Role of peroxisome proliferator-activated receptor alpha activation in acute myocardial damage induced by isoproterenol in rats
    Jie Yuan
    Cardiovascular Center, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150086, China
    Chin Med J (Engl) 121:1569-73. 2008
    ..The purpose of this study was to investigate the role and mechanisms of PPARa activation in relation to acute myocardial damage induced by isoproterenol in rats...
  82. 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
    ....
  83. doi Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study
    J H Walter
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, UK
    J Inherit Metab Dis 32:95-101. 2009
    ..The purpose of the study was to determine whether early detection of metabolic disease was possible and whether early intervention would improve prognosis...
  84. pmc Prolonged exposure to high dietary lipids is not associated with lipotoxicity in heart failure
    Julie H Rennison
    Department of Physiology and Biophysics, School of Medicine E558, Case Western Reserve University, Cleveland, OH 44106 4970, USA
    J Mol Cell Cardiol 46:883-90. 2009
    ..Despite increased medium-chain acyl-CoA dehydrogenase (MCAD) activity in interfibrillar mitochondria (IFM) of both SHAM+FAT and HF+FAT, dietary lipids also were associated ..
  85. pmc Molecular mechanism underlying the suppression of lipid oxidation during endotoxemia
    Urmila Maitra
    Laboratory of Innate Immunity and Inflammation, Department of Biology, Virginia Tech, Blacksburg, VA 24061, United States
    Mol Immunol 47:420-5. 2009
    ..suppresses FFA oxidation through decreasing the expression levels of key FFA oxidative genes including CPT-1 and MCAD in both liver and kidney tissues of WT but not IRAK-1(-/-) mice...
  86. doi Expanded newborn screening: reducing harm, assessing benefit
    Bridget Wilcken
    Biochemical Genetics and Newborn Screening, The Children s Hospital at Westmead, Hawkesbury Road, Westmead, NSW, Australia
    J Inherit Metab Dis 33:S205-10. 2010
    ..The study was too small to provide conclusions for individual disorders other than for medium-chain acyl-CoA dehydrogenase deficiency...
  87. doi Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
    Roman Yusupov
    Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Mol Genet Metab 101:33-9. 2010
    ....
  88. doi Expanded newborn screening in Greece: 30 months of experience
    Yannis L Loukas
    Division of Pharmaceutical Chemistry, School of Pharmacy, University of Athens, Panepistimiopolis of Zographou, GR 157 71 Athens, Greece
    J Inherit Metab Dis 33:S341-8. 2010
    ..To the best of our knowledge, this is the first article reporting the status of expanded newborn screening in Greece. ..
  89. pmc A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
    Anne Frédérique Dessein
    Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism Nutrition and Oncology, Center of Biology and Pathology Pierre Marie Degand, CHRU Lille, 59037 Lille, France
    Orphanet J Rare Dis 5:26. 2010
    ..A diagnosis of mild MCAD deficiency (MCADD) was based on rates of 1-14C-octanoate and 9, 10-3H-myristate oxidation and of octanoyl-CoA ..
  90. pmc Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies
    Juliet Oerton
    MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, United Kingdom
    J Med Screen 18:173-81. 2011
    ..Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain...
  91. doi Disorders of fatty acid oxidation
    Ingrid Tein
    Neurometabolic Clinic and Research Laboratory, Division of Neurology and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada Electronic address
    Handb Clin Neurol 113:1675-88. 2013
    ..The most common defect is medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, which had an incidence of 1 in 8930 live births in one series...
  92. ncbi P426Delayed preconditioning-like protection against ischemia/reperfusion injury in the rat heart is associated with PPAR-alpha-mediated changes in metabolic genes and non-metabolic effects
    T Ravingerova
    Slovak Academy of Sciences, Institute for Heart Research, Bratislava, Slovak Republic
    Cardiovasc Res 103:S78. 2014
    ..Sampling for measurement of the expression of PPAR-alpha and its target genes (MCAD, PDK-4, mCPT-1, GLUT-4) and gene of heme oxygenase-1 (HO-1) as a key antioxidative enzyme (real-time RT-PCR), as ..
  93. doi Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan
    Keiichi Hara
    Department of Pediatrics, National Hospital Organization Kure Medical Center, Kure 737 0023, Japan Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1 2 3 Kasumi, Minami Ku, Hiroshima 734 8551, Japan
    Mol Genet Metab 118:9-14. 2016
    ..2000, there has been a remarkable increase in Japanese patients diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  94. doi Embryonic exposures of lithium and homocysteine and folate protection affect lipid metabolism during mouse cardiogenesis and placentation
    Mingda Han
    Dept of Pediatrics, USF Morsani College of Medicine, USF Children s Research Institute, St Petersburg, FL33701, United States
    Reprod Toxicol 61:82-96. 2016
    ..High folate supplementation protected normal heart-placental function, gene expression and lipid localization. ..
  95. pmc Pharmacological treatment options for mast cell activation disease
    Gerhard J Molderings
    Institute of Human Genetics, University Hospital of Bonn, Sigmund Freud Strasse 25, 53127, Bonn, Germany
    Naunyn Schmiedebergs Arch Pharmacol 389:671-94. 2016
    Mast cell activation disease (MCAD) is a term referring to a heterogeneous group of disorders characterized by aberrant release of variable subsets of mast cell (MC) mediators together with accumulation of either morphologically altered ..
  96. doi Polycyclic aromatic hydrocarbons are associated with insulin receptor substrate 2 methylation in adipose tissues of Korean women
    Young Hun Kim
    Department of Anatomy and BK21 Plus KNU Biomedical Convergence Program, School of Medicine, Kyungpook National University, Daegu, Republic of Korea
    Environ Res 150:47-51. 2016
    ..methylation status of 12 genes involved in glucose and lipid metabolism (CS, GLUT4, IR, IRS1, IRS2, LIPIN1, MCAD, PCK1, PCK2, PPARGC1Β, SDHA, and SREBP1) in visceral AT of Korean women by using methylation-specific PCR (MSP)...
  97. doi cis-4-Decenoic and decanoic acids impair mitochondrial energy, redox and Ca(2+) homeostasis and induce mitochondrial permeability transition pore opening in rat brain and liver: Possible implications for the pathogenesis of MCAD deficiency
    Alexandre Umpierrez Amaral
    Departamento de Bioquimica, Instituto de Ciencias Basicas da Saude, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    Biochim Biophys Acta 1857:1363-72. 2016
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is biochemically characterized by tissue accumulation of octanoic (OA), decanoic (DA) and cis-4-decenoic (cDA) acids, as well as by their carnitine by-products...
  98. ncbi [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]
    Jian Qiang Tan
    Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China
    Zhongguo Dang Dai Er Ke Za Zhi 18:1019-1025. 2016
    ..Genetic analyses of the ACADM and ACADS genes are helpful for the diagnosis of medium- and short-chain acyl-CoA dehydrogenase deficiency...
  99. ncbi Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase
    A W Mohsen
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Biochemistry 34:10146-52. 1995
    ..E376 of pig medium chain acyl-CoA dehydrogenase (MCAD), a homologous enzyme, has been identified as the active site catalytic residue...
  100. ncbi Safe and unsafe duration of fasting for children with MCAD deficiency
    Terry G J Derks
    Section of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, P O Box 30 001, 9700 RB, Groningen, The Netherlands
    Eur J Pediatr 166:5-11. 2007
    To study the safe and unsafe duration of fasting in children with medium chain acyl-Coenzyme A dehydrogenase (MCAD) deficiency, the literature and the database on Dutch MCAD-deficient patients were searched for data on fasting studies in ..
  101. ncbi Omalizumab treatment of systemic mast cell activation disease: experiences from four cases
    Gerhard J Molderings
    Institute of Human Genetics, University Hospital of Bonn, Germany
    Intern Med 50:611-5. 2011
    We report on the outcome of 4 patients with therapy-resistant systemic mast cell activation disease (MCAD) treated with the anti-IgE monoclonal antibody omalizumab in compassionate use...

Research Grants29

  1. JUNG JA P KIM; Fiscal Year: 2015
    ....
  2. Eric S Goetzman; Fiscal Year: 2016
    ..and Sirt5 and the enzymes very long-chain acyl-CoA dehydrogenase (VLCAD), medium chain-acyl-CoA dehydrogenase (MCAD), and isovaleryl-CoA dehydrogenase (IVD)...
  3. Development of Chemical Chaperonin for Medium Chain Acyl-CoA Dehydrogenase Defici
    AL WALID ABDEL MOHSEN; Fiscal Year: 2010
    ..A single mutation in the MCAD gene (a G985A point mutation) has been identified in 90% of the alleles in the MCAD gene in deficient patients...
  4. 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...
  5. Ethical Decision-Making for Newborn Genetic Screening
    Thomas Murray; Fiscal Year: 2004
    ..disorders as case studies: Sickle Cell Disease, Cystic Fibrosis, Medium Chain Acyl-CoA Dehydrogenase deficiency (MCAD), and Severe Combined lmmuno-Deficiency (SCID)...
  6. A Disease Causing Mutation in Acyl-CoA Dehydogenase
    D Srivastava; Fiscal Year: 2001
    ..mutations on protein stability and catalytic properties of human liver medium chain acyl-CoA dehydrogenase (MCAD)...
  7. AUTOMATED DNA TESTING FOR SCREENING AND DIAGNOSIS
    Edward McCabe; Fiscal Year: 1992
    ..application for diagnosis of genetic and infectious diseases, we have targeted medium chain acyl-CoA dehydrogenase (MCAD) deficiency and sickle cell disease for the initial application...
  8. INHERITED DISORDERS OF OXIDATIVE METABOLISM IN MAN
    William Rhead; Fiscal Year: 1991
    ..We will raise polyclonal and monoclonal antibodies to pig SCADH, MCADH and ETF and use immunotitration and immunoblot analysis to detect molecular weight, isoelectric or cross-reacting ..
  9. Gene Therapy for Lung and Cardiovascular Disease
    Nicholas Muzyczka; Fiscal Year: 2012
    ..of these defects in animal models and will focus on preclinical experiments for the correction of VLCAD and MCAD as well as preclinical toxicology studies of muscle delivery for these defects using AAV8 and AAV9 vectors...
  10. HTS of Compounds Modulating PGC-1a Acetylation and Oxidative Metabolic Function
    Pere Puigserver; Fiscal Year: 2012
    ..We will focus on (i) we will confirm that increased expression of the PGC-11 target genes MCAD and CPT1b is dependent upon PGC-11 and, (ii) we will analyze the specific target mechanism by which positive ..
  11. Pharmacogenetics in Tourette Syndrom
    Harvey Singer; Fiscal Year: 2004
    ..The identification of genetic polymorphisms that are associated with clinical disease or treatment success, has obvious benefits. ..
  12. Attentional Dysfunction in Children with Phenylketonuria
    Georgianne Arnold; Fiscal Year: 2008
    ....
  13. 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. ..
  14. 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. ..
  15. 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. ..
  16. Computer Decision Aid for ADHD Management (CDAAM)
    Aaron E Carroll; Fiscal Year: 2010
    ..We will assess the quality of ADHD services at baseline and again at 12 months post implementation. These methods will allow a thorough description of the intervention's role in the process of ADHD management. ..
  17. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2010
    ....
  18. Alcohol abuse in a small rodent neuroAIDS model
    Johnny He; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  19. 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]..
  20. 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. ..
  21. 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]..
  22. Mobile Tool for Adolescent Diabetes Management
    Aaron Carroll; Fiscal Year: 2008
    ..This research request will form the foundation of an R01 proposal to rigorously study the tool's impact on adolescent diabetes management ..
  23. 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. ..
  24. Austin 5HT Candidate Gene Discovery with C Elegans
    J Jay Gargus; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  25. PPARs and LXR Regulate Epidermal Differentiation
    Kenneth Feingold; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  26. 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. ..
  27. 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. ..
  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. ..