medium chain acyl CoA dehydrogenase

Summary

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

Top Publications

  1. Yang B, Ding J, Zhou C, Dimachkie M, Sweetman L, Dasouki M, et al. Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2000;69:259-62 pubmed
    ..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. Grosse S, Khoury M, Greene C, Crider K, Pollitt R. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med. 2006;8:205-12 pubmed
    ..Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts. ..
  3. O Reilly L, Andresen B, Engel P. 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. FEBS J. 2005;272:4549-57 pubmed
    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 ..
  4. Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen B, et al. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab. 2006;87:32-9 pubmed
    ..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...
  5. Yokota I, Indo Y, Coates P, Tanaka K. 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. J Clin Invest. 1990;86:1000-3 pubmed
    We sequenced polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient patients...
  6. Tanaka K, Yokota I, Coates P, Strauss A, Kelly D, Zhang Z, et al. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat. 1992;1:271-9 pubmed
    Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids...
  7. Lehotay D, LePage J, Thompson J, Rockman Greenberg C. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?. J Inherit Metab Dis. 2004;27:81-8 pubmed
    Patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are unable to metabolize medium-chain fatty acids...
  8. Maier E, Liebl B, Röschinger W, Nennstiel Ratzel U, Fingerhut R, Olgemöller B, et al. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005;25:443-52 pubmed
    ..Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening. ..
  9. Blois B, Riddell C, Dooley K, Dyack S. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. J Inherit Metab Dis. 2005;28:551-6 pubmed
    Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation...
  10. Derks T, Boer T, van Assen A, Bos T, Ruiter J, Waterham H, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2008;31:88-96 pubmed publisher
    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...

Detail Information

Publications62

  1. Yang B, Ding J, Zhou C, Dimachkie M, Sweetman L, Dasouki M, et al. Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2000;69:259-62 pubmed
    ..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. Grosse S, Khoury M, Greene C, Crider K, Pollitt R. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med. 2006;8:205-12 pubmed
    ..Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts. ..
  3. O Reilly L, Andresen B, Engel P. 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. FEBS J. 2005;272:4549-57 pubmed
    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 ..
  4. Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen B, et al. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab. 2006;87:32-9 pubmed
    ..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...
  5. Yokota I, Indo Y, Coates P, Tanaka K. 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. J Clin Invest. 1990;86:1000-3 pubmed
    We sequenced polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient patients...
  6. Tanaka K, Yokota I, Coates P, Strauss A, Kelly D, Zhang Z, et al. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat. 1992;1:271-9 pubmed
    Medium chain acyl-CoA dehydrogenase (MCAD) catalyzes the first reaction of the beta-oxidation cycle for 4-10-carbon fatty acids...
  7. Lehotay D, LePage J, Thompson J, Rockman Greenberg C. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?. J Inherit Metab Dis. 2004;27:81-8 pubmed
    Patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are unable to metabolize medium-chain fatty acids...
  8. Maier E, Liebl B, Röschinger W, Nennstiel Ratzel U, Fingerhut R, Olgemöller B, et al. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005;25:443-52 pubmed
    ..Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening. ..
  9. Blois B, Riddell C, Dooley K, Dyack S. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation. J Inherit Metab Dis. 2005;28:551-6 pubmed
    Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation...
  10. Derks T, Boer T, van Assen A, Bos T, Ruiter J, Waterham H, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2008;31:88-96 pubmed publisher
    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...
  11. ter Veld F, Mueller M, Kramer S, Haussmann U, Herebian D, Mayatepek E, et al. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. PLoS ONE. 2009;4:e6449 pubmed publisher
    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 ..
  12. Smith E, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, et al. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab. 2010;100:241-50 pubmed publisher
    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...
  13. Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates P, Bachmann C, et al. Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun. 1990;171:498-505 pubmed
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man...
  14. Maier E, Gersting S, Kemter K, Jank J, Reindl M, Messing D, et al. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. Hum Mol Genet. 2009;18:1612-23 pubmed publisher
    ..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 ..
  15. Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, et al. 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. Mol Genet Metab. 2009;96:77-9 pubmed publisher
    ..This study suggests the genotypic difference between those of Caucasians and Japanese regarding MCADD. ..
  16. Kuchler B, Abdel Ghany A, Bross P, Nandy A, Rasched I, Ghisla S. Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site. Biochem J. 1999;337 ( Pt 2):225-30 pubmed
    Medium-chain acyl-CoA dehydrogenase (MCADH) deficiency, an autosomal recessive inherited disorder, is the most common genetic disorder in mitochondrial beta-oxidation in humans...
  17. Sturm M, Herebian D, Mueller M, Laryea M, Spiekerkoetter U. Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. PLoS ONE. 2012;7:e45110 pubmed publisher
    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...
  18. Yokota I, Coates P, Hale D, Rinaldo P, Tanaka K. 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. Am J Hum Genet. 1991;49:1280-91 pubmed
    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...
  19. Nichols M, Saavedra Matiz C, Pass K, Caggana M. 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. Am J Med Genet A. 2008;146A:610-9 pubmed publisher
    ..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. Kelly D, Whelan A, Ogden M, Alpers R, Zhang Z, Bellus G, et al. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. Proc Natl Acad Sci U S A. 1990;87:9236-40 pubmed
    Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a common inherited defect in energy metabolism...
  21. Andresen B, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, et al. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?. Hum Mol Genet. 1997;6:695-707 pubmed
    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...
  22. Andresen B, Dobrowolski S, O Reilly L, Muenzer J, McCandless S, Frazier D, et al. 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 resu. Am J Hum Genet. 2001;68:1408-18 pubmed
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial beta-oxidation defect, and it is potentially fatal...
  23. Ziadeh R, Hoffman E, Finegold D, Hoop R, Brackett J, Strauss A, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 1995;37:675-8 pubmed
    Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids...
  24. Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann G, et al. Molecular and functional characterisation of mild MCAD deficiency. Hum Genet. 2001;108:404-8 pubmed
    ..Enzyme studies showed residual MCAD activities between "classical" MCADD and heterozygotes...
  25. Niu Z, Shi Q, Zhang W, Shu Y, Yang N, Chen B, et al. Caspase-1 cleaves PPARγ for potentiating the pro-tumor action of TAMs. Nat Commun. 2017;8:766 pubmed publisher
    ..PPARγ translocates to mitochondria, where it directly interacts with medium-chain acyl-CoA dehydrogenase (MCAD)...
  26. Małecki J, Ho A, Moen A, Dahl H, Falnes P. Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity. J Biol Chem. 2015;290:423-34 pubmed publisher
    ..Based on the previous naming of similar enzymes, we suggest the renaming of human METTL20 to ETFβ-KMT. ..
  27. Ohnogi H, Hayami S, Kudo Y, Deguchi S, Mizutani S, Enoki T, et al. Angelica keiskei extract improves insulin resistance and hypertriglyceridemia in rats fed a high-fructose drink. Biosci Biotechnol Biochem. 2012;76:928-32 pubmed
    ..Treatment with AE enhanced the expression of the acyl-CoA oxidase 1 (ACO1), medium-chain acyl-CoA dehydrogenase (MCAD), ATP-binding membrane cassette transporter A1 (ABCA1) and apolipoprotein A1 (Apo-A1) genes...
  28. Maehara K, Hida T, Abe Y, Koga A, Ota K, Kutoh E. Functional interference between estrogen-related receptor alpha and peroxisome proliferator-activated receptor alpha/9-cis-retinoic acid receptor alpha heterodimer complex in the nuclear receptor response element-1 of the medium chain acyl-coenzyme A. J Mol Endocrinol. 2003;31:47-60 pubmed
    ..Nuclear receptor response element-1 (NRRE-1) from the human medium-chain acyl coenzyme A dehydrogenase (MCAD) gene promoter was shown to contain three hexamer elements (site 1 through 3) that are known to interact with a ..
  29. Ding J, Yang B, Bao Y, Roe C, Chen Y. Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Am J Hum Genet. 1992;50:229-33 pubmed
    A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families...
  30. Shiou Y, Huang I, Lin H, Lee H. High fat diet aggravates atrial and ventricular remodeling of hypertensive heart disease in aging rats. J Formos Med Assoc. 2017;: pubmed publisher
    ..05). Hypertensive heart disease in aging rats was aggravated by HFD with worse atrial, ventricular remodeling and associated with left ventricular systolic function impairment. ..
  31. Guo X, Ran C, Zhang Z, He S, Jin M, Zhou Z. The Growth-Promoting Effect of Dietary Nucleotides in Fish Is Associated with an Intestinal Microbiota-Mediated Reduction in Energy Expenditure. J Nutr. 2017;147:781-788 pubmed publisher
    ..FA oxidation [carnitine:palmitoyl transferase 1a (cpt1a) and medium-chain acyl coenzyme A dehydrogenase (mcad)] in liver and muscle...
  32. Thodi G, Georgiou V, Molou E, Loukas Y, Dotsikas Y, Biti S, et al. Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant. Clin Biochem. 2012;45:1167-72 pubmed publisher
    ..Therefore, this variant along with the c.985A>G allele could constitute a panel for both prenatal and neonatal MCADD screening in the Greek population. ..
  33. Jank J, Maier E, Reiβ D, Haslbeck M, Kemter K, Truger M, et al. The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. PLoS ONE. 2014;9:e93852 pubmed publisher
    ..the impact of thermal stress revealed that mutations in the ACADM gene lower the temperature threshold at which MCAD loss-of-function occurs...
  34. Illig T, Gieger C, Zhai G, Römisch Margl W, Wang Sattler R, Prehn C, et al. A genome-wide perspective of genetic variation in human metabolism. Nat Genet. 2010;42:137-41 pubmed publisher
    ..5 x 10(-179). These loci explained 5.6%-36.3% of the observed variance in metabolite concentrations. For several loci, associations with clinically relevant parameters have been reported previously. ..
  35. Finocchiaro G, Ito M, Tanaka K. Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver. J Biol Chem. 1987;262:7982-9 pubmed
    ..The pattern of substrate specificity for these enzymes determined using ETF as electron acceptor significantly differed from that determined using PMS. All of them were severely inhibited by (methylenecyclopropyl)acetyl-CoA. ..
  36. Kormanik K, Kang H, Cuebas D, Vockley J, Mohsen A. Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate. Mol Genet Metab. 2012;107:684-9 pubmed publisher
    ..Molecular modeling suggests that medium chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.3), a key enzyme in straight chain fatty acid β-oxidation, could utilize phenylbutyryl-CoA as substrate...
  37. Bross P, Engst S, Strauss A, Kelly D, Rasched I, Ghisla S. Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli. J Biol Chem. 1990;265:7116-9 pubmed
    The cDNA of human medium chain acyl-CoA dehydrogenase (MCADH) was modified by in vitro mutagenesis, and the sequence encoding the mature form of MCADH was introduced into an inducible expression plasmid...
  38. Kelly D, Kim J, Billadello J, Hainline B, Chu T, Strauss A. Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. Proc Natl Acad Sci U S A. 1987;84:4068-72 pubmed
    Medium-chain acyl-CoA dehydrogenase (MCAD; acyl-CoA: (acceptor) 2,3-oxidoreductase, EC 1.3.99.3) is one of three similar enzymes that catalyze the initial step of fatty acid beta-oxidation...
  39. Hara K, Tajima G, Okada S, Tsumura M, Kagawa R, Shirao K, et al. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. Mol Genet Metab. 2016;118:9-14 pubmed publisher
    ..2000, there has been a remarkable increase in Japanese patients diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  40. Leone T, Cresci S, Carter M, Zhang Z, Lala D, Strauss A, et al. The human medium chain Acyl-CoA dehydrogenase gene promoter consists of a complex arrangement of nuclear receptor response elements and Sp1 binding sites. J Biol Chem. 1995;270:16308-14 pubmed
    ..beta-oxidation enzyme, medium-chain acyl-CoA dehydrogenase (MCAD), is regulated among tissues during development and in response to alterations in substrate availability...
  41. Santos L, Patterson A, Moreea S, Lippiatt C, Walter J, Henderson M. Acute liver failure in pregnancy associated with maternal MCAD deficiency. J Inherit Metab Dis. 2007;30:103 pubmed
    ..We describe acute liver failure associated with an undiagnosed maternal medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  42. Wang S, Fernhoff P, Hannon W, Khoury M. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med. 1999;1:332-9 pubmed
    Medium chain acyl-CoA dehydrogenase (MCAD) is a tetrameric flavoprotein essential for the beta-oxidation of medium chain fatty acids. MCAD deficiency (MCADD) is an inherited error of fatty acid metabolism...
  43. Kølvraa S, Gregersen N, Blakemore A, Schneidermann A, Winter V, Andresen B, et al. The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene. Hum Genet. 1991;87:425-8 pubmed
    RFLP haplotypes in the region containing the medium-chain acyl-CoA dehydrogenase (MCAD) gene on chromosome 1 have been determined in patients with MCAD deficiency...
  44. Brackett J, Sims H, Steiner R, Nunge M, Zimmerman E, deMartinville B, et al. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest. 1994;94:1477-83 pubmed
    Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single mutation: A to G replacement at nucleotide 985 (A985G)...
  45. Bartha J, Bugatto F, Fernández Deudero A, Fernández Macías R, Perdomo G. Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy. Lipids Health Dis. 2016;15:200 pubmed
    ..We have measured by Real-time PCR the levels of long- and medium -chain acyl-CoA dehydrogenase (LCHAD and MCAD), two acyl-CoA dehydrogenases that catalyze the initial step in the mitochondrial FAO spiral...
  46. Touw C, Smit G, De Vries M, De Klerk J, Bosch A, Visser G, et al. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis. 2012;7:30 pubmed publisher
    Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that ..
  47. Peterson K, Galitz D, Srivastava D. Influence of excision of a methylene group from Glu-376 (Glu376-->Asp mutation) in the medium chain acyl-CoA dehydrogenase-catalyzed reaction. Biochemistry. 1998;37:1697-705 pubmed
    The human liver medium chain acyl-CoA dehydrogenase (MCAD)-catalyzed reaction proceeds via abstraction of an alpha-proton from the acyl-CoA substrates by the carboxyl group of Glu-376...
  48. Hanley P, Gopalan K, Lareau R, Srivastava D, von Meltzer M, Daut J. Beta-oxidation of 5-hydroxydecanoate, a putative blocker of mitochondrial ATP-sensitive potassium channels. J Physiol. 2003;547:387-93 pubmed
    ..whether activated 5-HD, 5-hydroxydecanoyl-CoA (5-HD-CoA), is a substrate for medium-chain acyl-CoA dehydrogenase (MCAD), the committed step of the mitochondrial beta-oxidation pathway...
  49. Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, et al. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. Mol Genet Metab. 2016;119:322-328 pubmed publisher
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations...
  50. Bruun G, Doktor T, Andresen B. A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. Mol Genet Metab. 2013;110:122-8 pubmed publisher
    ..based metabolic profiling, a single-nucleotide polymorphism (SNP), rs211718C>T, located far upstream of the MCAD gene (ACADM) was found to be associated with serum concentrations of medium-chain acylcarnitines indicating ..
  51. Duran M, Hofkamp M, Rhead W, Saudubray J, Wadman S. Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics. 1986;78:1052-7 pubmed
    ..Careful monitoring of at-risk patients during a minor illness is necessary. ..
  52. Lee H, Wang M, Paschke R, Nandy A, Ghisla S, Kim J. Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity. Biochemistry. 1996;35:12412-20 pubmed
    Crystal structures of the wild type human medium-chain acyl-CoA dehydrogenase (MCADH) and a double mutant in which its active center base-arrangement has been altered to that of long chain acyl-CoA dehydrogenase (LCADH), Glu376Gly/..
  53. Maydan G, Andresen B, Madsen P, Zeigler M, Raas Rothschild A, Zlotogorski A, et al. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. J Inherit Metab Dis. 2006;29:620-6 pubmed
    ..1249C > T (R417X) exon 12 nonsense mutation (previously reported in a French patient) was identified in both patients from the third kindred, enabling successful prenatal diagnosis of an unaffected fetus using chorionic villous tissue...
  54. Battaile K, McBurney M, Van Veldhoven P, Vockley J. Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA. Biochim Biophys Acta. 1998;1390:333-8 pubmed
    ..No activity was measurable with R-2-methylpentadecanoyl-CoA. Purified medium chain acyl-CoA dehydrogenase (MCAD) could also utilize S-2-methylpentadecanoyl-CoA as a substrate, but not R-2-methylpentadecanoyl-CoA...
  55. Ventura F, Leandro P, Luz A, Rivera I, Silva M, Ramos R, et al. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. Clin Genet. 2014;85:555-61 pubmed publisher
    ..Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed. ..
  56. He M, Pei Z, Mohsen A, Watkins P, Murdoch G, Van Veldhoven P, et al. Identification and characterization of new long chain acyl-CoA dehydrogenases. Mol Genet Metab. 2011;102:418-29 pubmed publisher
    ..ACAD9 was most highly expressed in the granular layer, ACAD11 in the white matter, and MCAD in the molecular layer and axons of specific neurons...
  57. Al Hassnan Z, Imtiaz F, Al Amoudi M, Rahbeeni Z, Al Sayed M, Al Owain M, et al. Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. J Inherit Metab Dis. 2010;33 Suppl 3:S263-7 pubmed publisher
    ..The identification of a founder mutation for MCADD has important implications for the preventive screening programs not only in Saudi Arabia but potentially also in other countries in the region. ..
  58. Ahrens Nicklas R, Pyle L, Ficicioglu C. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency. Genet Med. 2016;18:1315-1319 pubmed publisher
    Despite greatly improved morbidity and mortality among infants with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) since the implementation of universal newborn screening (NBS), a population of neonates still becomes ill before ..
  59. Lou P, Lucchinetti E, Scott K, Huang Y, Gandhi M, Hersberger M, et al. Alterations in fatty acid metabolism and sirtuin signaling characterize early type-2 diabetic hearts of fructose-fed rats. Physiol Rep. 2017;5: pubmed publisher
    ..Along with increased oxidative stress, this may represent one of the earliest signs of dysfunction that will ultimately lead to inflammation and remodeling in the diabetic heart. ..
  60. Blakemore A, Singleton H, Pollitt R, Engel P, Kolvraa S, Gregersen N, et al. Frequency of the G985 MCAD mutation in the general population. Lancet. 1991;337:298-9 pubmed