butyryl coa dehydrogenase

Summary

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

Top Publications

  1. Schiffer S, Prochazka M, Jezyk P, Roderick T, Yudkoff M, Patterson D. Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. Biochem Genet. 1989;27:47-58 pubmed
    ..Independently from this screening a variant with no detectable enzyme activity of butyryl CoA dehydrogenase (BCD) in liver and kidney of the BALB/cByJ strain but not other BALB/c sublines was discovered...
  2. Inui M, Suda M, Kimura S, Yasuda K, Suzuki H, Toda H, et al. Expression of Clostridium acetobutylicum butanol synthetic genes in Escherichia coli. Appl Microbiol Biotechnol. 2008;77:1305-16 pubmed
    ..This study reports the novel butanol production by an aerobically pregrown microorganism possessing the genes of a strict anaerobe, Clostridium acetobutylicum...
  3. Ferreira G, André K, Schuck P, Viegas C, Tonin A, Coelho D, et al. Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. Metab Brain Dis. 2006;21:29-39 pubmed
    ..Although transient high concentrations of EMA did not alter important parameters of energy metabolism, it cannot be ruled out that chronic administration of this organic acid would disrupt energy metabolism. ..
  4. Minkler P, Stoll M, Ingalls S, Kerner J, Hoppel C. Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles". Mol Genet Metab. 2015;116:231-41 pubmed publisher
    ..These capabilities are unavailable when using tandem MS "profiles". We also show examples of research interest, where separation of acylcarnitine species and accurate and precise acylcarnitine quantification is necessary. ..
  5. van Maldegem B, Duran M, Wanders R, Waterham H, de Koning T, Rubio E, et al. Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr. 2010;156:121-7 pubmed publisher
    ..However, the results of our study indicate that there is no clear pathophysiological significance, irrespective of genotype, supporting the claim that SCADD is not suited for inclusion in newborn screening programs. ..
  6. Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, et al. ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 2006;43:340-6 pubmed
    ..SNP analysis in our patients ruled out a pathogenic role of SCAD variants in EE, but did show a highly significant prevalence of the 625A alleles in non-EE EMA patients. ..
  7. Seeley T, Holmes R. Genetics and ontogeny of butyryl CoA dehydrogenase in the mouse and linkage of Bcd-1 with Dao-1. Biochem Genet. 1981;19:333-45 pubmed
    ..been developed for fatty acyl CoA dehydrogenase and used to examine the electrophoretic properties of butyryl CoA dehydrogenase (BCD) from mouse tissues...
  8. Bulut F, Kor D, Seker Yilmaz B, Gul Mert G, Kılavuz S, Onenli Mungan N. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. Metab Brain Dis. 2018;33:977-979 pubmed publisher
    ..Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency. ..
  9. Schuck P, Busanello E, Moura A, Tonin A, Grings M, Ritter L, et al. Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. Neurochem Res. 2010;35:298-305 pubmed publisher
    ..It is therefore presumed that oxidative stress may represent a pathomechanism involved in the pathophysiology of the neurologic symptoms manifested by patients affected by disorders in which EMA accumulates. ..

More Information

Publications62

  1. Pedersen C, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, et al. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet. 2008;124:43-56 pubmed publisher
    ..We propose that SCAD deficiency should be considered as a disorder of protein folding that can lead to clinical disease in combination with other genetic and environmental factors. ..
  2. Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, et al. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. Hum Genet. 2010;127:619-28 pubmed publisher
    ..Moreover, our results provide insight into possible molecular pathophysiology of SCADD. ..
  3. Merinero B, Perez Cerda C, Ruiz Sala P, Ferrer I, Garcia M, Martinez Pardo M, et al. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J Inherit Metab Dis. 2006;29:685 pubmed
    ..Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect. ..
  4. Hu L, Huang H, Yuan H, Tao F, Xie H, Wang S. Rex in Clostridium kluyveri is a global redox-sensing transcriptional regulator. J Biotechnol. 2016;233:17-25 pubmed publisher
    ..These results suggest that Rex plays a key role in the carbon and energy metabolism of C. kluyveri as a global transcriptional regulator in response to the cellular NADH/NAD(+) ratio. ..
  5. Skilling H, Coen P, Fairfull L, Ferrell R, Goodpaster B, Vockley J, et al. Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice. Biochem Biophys Res Commun. 2010;400:318-22 pubmed publisher
    ..We speculate that other mechanisms such as shivering capacity, cardiac function, and reduced hepatic glycogen stores are involved. ..
  6. Li F, Hinderberger J, Seedorf H, Zhang J, Buckel W, Thauer R. Coupled ferredoxin and crotonyl coenzyme A (CoA) reduction with NADH catalyzed by the butyryl-CoA dehydrogenase/Etf complex from Clostridium kluyveri. J Bacteriol. 2008;190:843-50 pubmed
    ..The implications of this finding for the energy metabolism of butyrate-forming anaerobes are discussed in the accompanying paper...
  7. Demmer J, Pal Chowdhury N, Selmer T, Ermler U, Buckel W. The semiquinone swing in the bifurcating electron transferring flavoprotein/butyryl-CoA dehydrogenase complex from Clostridium difficile. Nat Commun. 2017;8:1577 pubmed publisher
    ..One electron goes to ferredoxin and one to α-FAD, which swings over to reduce δ-FAD to the semiquinone. Repetition affords a second reduced ferredoxin and δ-FADH-, which reduces crotonyl-CoA. ..
  8. Schuler A, Gower B, Matern D, Rinaldo P, Vockley J, Wood P. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab. 2005;85:7-11 pubmed
    ..These results substantiate the concept of synergistic heterozygosity and illustrate the potential complexity involved in diagnosis and characterization of inborn errors of fatty acid metabolism in humans. ..
  9. Kwiecien R, Ayadi F, Nemmaoui Y, Silvestre V, Zhang B, Robins R. Probing stereoselectivity and pro-chirality of hydride transfer during short-chain alcohol dehydrogenase activity: a combined quantitative 2H NMR and computational approach. Arch Biochem Biophys. 2009;482:42-51 pubmed publisher
    ..These experiments help to provide insight into structural features that influence the potential catalytic flexibility of different alcohol dehydrogenase activities. ..
  10. Stagi S, Gasperini S, Manoni C, Greco A, Funghini S, Donati A. Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency. Horm Res Paediatr. 2010;73:409-13 pubmed publisher
    ..As has been reported in other mitochondrial disorders, we hypothesised that autoimmune diseases are also present in SCAD deficiency. Furthermore, we discuss the possible pathogenetic relationship between these diseases. ..
  11. Pedersen C, Zolkipli Z, Vang S, Palmfeldt J, Kjeldsen M, Stenbroen V, et al. Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. J Inherit Metab Dis. 2010;33:211-22 pubmed publisher
    ..We propose that reduced mitochondrial antioxidant capacity is a potential risk factor for ACADS c.625G>A-associated ethylmalonic aciduria and that mitochondrial dysfunction contributes to the neurotoxicity observed in patients. ..
  12. Reichmann H, Maltese W, DeVivo D. Enzymes of fatty acid beta-oxidation in developing brain. J Neurochem. 1988;51:339-44 pubmed
  13. Pedersen C, Bross P, Winter V, Corydon T, Bolund L, Bartlett K, et al. Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J Biol Chem. 2003;278:47449-58 pubmed
    ..The latter finding may indicate that accumulation of aggregated SCAD proteins may play a role in the pathogenesis of SCAD deficiency. ..
  14. Zeng Z, Huang Q, Shu Z, Liu P, Chen S, Pan X, et al. Effects of short-chain acyl-CoA dehydrogenase on cardiomyocyte apoptosis. J Cell Mol Med. 2016;20:1381-91 pubmed publisher
    ..In conclusion, for the first time our findings directly demonstrated that SCAD may be as a new target to prevent cardiomyocyte apoptosis through the AMPK/PPAR?/SCAD signal pathways. ..
  15. van Maldegem B, Duran M, Wanders R, Waterham H, Wijburg F. Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2010;67:304-8 pubmed publisher
    ..As our study could not demonstrate a clinically relevant effect of riboflavin, general use of riboflavin cannot be recommended. ..
  16. Okuyaz C, Ezgu F, Biberoglu G, Zeviani M, Tiranti V, Yilgor E. Severe infantile hypotonia with ethylmalonic aciduria: case report. J Child Neurol. 2008;23:703-5 pubmed publisher
    ..It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders. ..
  17. Goetzman E, He M, Nguyen T, Vockley J. Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism. Mol Genet Metab. 2006;87:233-42 pubmed
    ..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. ..
  18. Smith Richards B, Belton B, York B, Volaufova J. Mice bearing Acads mutation display altered postingestive but not 5-s orosensory response to dietary fat. Am J Physiol Regul Integr Comp Physiol. 2004;286:R311-9 pubmed
    ..The observation that SCAD-deficient mice display altered postingestive responses to dietary fat provides further evidence for the metabolic control of feeding. ..
  19. Sass J, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab. 2008;93:30-5 pubmed
    ..The relatively high prevalence of ACADSB gene mutations in control subjects suggests that MBD deficiency may be more common than previously thought but is not detected because of its usually benign nature. ..
  20. Madsen P, Kibaek M, Roca X, Sachidanandam R, Krainer A, Christensen E, et al. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet. 2006;118:680-90 pubmed
    ..This finding is relevant to the interpretation of the functional consequences of this type of mutation in other disease genes. ..
  21. Boynton Z, Bennet G, Rudolph F. Cloning, sequencing, and expression of clustered genes encoding beta-hydroxybutyryl-coenzyme A (CoA) dehydrogenase, crotonase, and butyryl-CoA dehydrogenase from Clostridium acetobutylicum ATCC 824. J Bacteriol. 1996;178:3015-24 pubmed
    ..coli harboring the subclone. In C. acetobutylicum harboring the subclone, the activities of the enzymes crotonase, BHBD, and BCD were elevated. ..
  22. Holm D, Dagnaes Hansen F, Simonsen H, Gregersen N, Bolund L, Jensen T, et al. Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer. Mol Genet Metab. 2003;78:250-8 pubmed
    ..Thus, hydrodynamic gene transfer allows for functional testing of SCAD variant proteins in vivo. ..
  23. De Leon D, Stanley C. Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab. 2007;3:57-68 pubmed
    ..The diagnosis and management of children with congenital hyperinsulinism requires a multidisciplinary approach to achieve the goal of therapy: prevention of permanent brain damage due to recurrent hypoglycemia. ..
  24. Schmidt S, Corydon T, Pedersen C, Bross P, Gregersen N. Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. Mol Genet Metab. 2010;100:155-62 pubmed publisher
    ..This finding indicates a toxic response elicited by misfolded p.Arg83Cys SCAD proteins. ..
  25. Marx S, Kaushansky N, Gratziany N, Barness I, Liron Z. Acoustic and optical transduction of BuChE binding to procainamide modified surfaces. Biosens Bioelectron. 2001;16:239-44 pubmed
    ..Binding of BuChE to PPA-coated TSM sensors were shown to follow a Langmuir isotherm giving association constant 3.4x10(6) M(-1). ..
  26. Ellison P, Engel P. Intrinsic crotonase activity in a bacterial butyryl-CoA dehydrogenase. Biochem Mol Biol Int. 1993;29:605-12 pubmed
    ..Butyryl-CoA dehydrogenase thus has intrinsic crotonase activity with a turnover rate (0.05 min-1) about 0.02% of the figure for dehydrogenase activity. Mechanistic implications are discussed. ..
  27. van Maldegem B, Waterham H, Duran M, van der Vlies M, van Woerden C, Bobu L, et al. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. J Inherit Metab Dis. 2005;28:557-62 pubmed
    ..However, homozygosity for the 625G>A variant might be only a biochemical phenomenon, representing a 'nondisease'. ..
  28. Kim Y, Cheon C, Park K, Park S, Kim G, Yoo H, et al. Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. Ann Clin Lab Sci. 2016;46:360-6 pubmed
    ..Our data contributes to a better understanding of the distinct molecular genetic characteristics and clinical manifestations of SCAD deficiency. ..
  29. Fournet J, Junien C. Genetics of congenital hyperinsulinism. Endocr Pathol. 2004;15:233-40 pubmed
    ..However, for as many as 50% of the cases, no genetic etiology has yet been determined. The study of the genetics of this disease has provided important new information regarding beta-cell physiology...
  30. Tyni T, Paetau A, Strauss A, Middleton B, Kivela T. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 2004;56:744-50 pubmed
    ..Reduced energy generation in the choroid plexus may contribute to the cerebral edema observed in patients with beta-oxidation defects. ..
  31. Nochi Z, Olsen R, Gregersen N. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms. J Inherit Metab Dis. 2017;40:641-655 pubmed publisher
    ..Therefore, SCADD is not part of the newborn screening programs in most countries, and consequently many patients with SCAD gene variants do not get a diagnosis and the possibilities to be followed up during development. ..
  32. Gallego O, Belyaeva O, Porté S, Ruiz F, Stetsenko A, Shabrova E, et al. Comparative functional analysis of human medium-chain dehydrogenases, short-chain dehydrogenases/reductases and aldo-keto reductases with retinoids. Biochem J. 2006;399:101-9 pubmed
    ..Cell culture studies support a role for RoDH-4 as a retinol dehydrogenase and for AKR1B1 as a retinaldehyde reductase in vivo. ..
  33. Ziosi M, Di Meo I, Kleiner G, Gao X, Barca E, Sanchez Quintero M, et al. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. EMBO Mol Med. 2017;9:96-111 pubmed publisher
  34. Kragh P, Pedersen C, Schmidt S, Winter V, Vajta G, Gregersen N, et al. Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice. Mol Genet Metab. 2007;91:128-37 pubmed
  35. Beattie S, Goetzman E, Conlon T, Germain S, Walter G, Campbell Thompson M, et al. Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD. Hum Gene Ther. 2008;19:579-88 pubmed publisher
    ..These results demonstrate biochemical correction of SCAD deficiency after AAV8-mediated SCAD gene delivery. ..
  36. Saenger A, Nguyen T, Vockley J, Stankovich M. Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding. Biochemistry. 2005;44:16043-53 pubmed
    ..These results indicate that substrate redox activation occurs in hSCAD leading to a large enzyme midpoint potential shift. Substrate binding in hSCAD appears to make a larger contribution than does product to thermodynamic modulation. ..
  37. Westermann C, Dorland L, Votion D, de Sain van der Velden M, Wijnberg I, Wanders R, et al. Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. Neuromuscul Disord. 2008;18:355-64 pubmed publisher
  38. Bok L, Vreken P, Wijburg F, Wanders R, Gregersen N, Corydon M, et al. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003;112:1152-5 pubmed
    ..Homozygosity for an inactivating 1138C>T SCAD mutation was assessed by neonatal screening of blood spot acylcarnitines. SCAD deficiency may be associated with maternal HELLP syndrome. ..
  39. Yoo M, Bestel Corre G, Croux C, Rivière A, Meynial Salles I, Soucaille P. A Quantitative System-Scale Characterization of the Metabolism of Clostridium acetobutylicum. MBio. 2015;6:e01808-15 pubmed publisher
    ..This approach allows for a better understanding of the regulation of primary metabolism and for the functional characterization of numerous enzymes involved in primary metabolism. ..
  40. Korman S, Andresen B, Zeharia A, Gutman A, Boneh A, Pitt J. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clin Chem. 2005;51:610-7 pubmed
    ..Awareness of 2-ethylhydracrylic aciduria as a diagnostic marker could lead to increased detection of SBCADD and improved definition of its clinical phenotype. ..
  41. Groeger C, Wang W, Sabra W, Utesch T, Zeng A. Metabolic and proteomic analyses of product selectivity and redox regulation in Clostridium pasteurianum grown on glycerol under varied iron availability. Microb Cell Fact. 2017;16:64 pubmed publisher
    ..Not only the NADH pool but also the regulation of the ferredoxin pool could explain such product variation under different iron conditions. ..
  42. Koeberl D, Young S, Gregersen N, Vockley J, Smith W, Benjamin D, et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003;54:219-23 pubmed
    ..Isobutyryl-CoA dehydrogenase deficiency in a fourth infant was confirmed after isolated elevation of C4-carnitine in the acylcarnitine profile. ..
  43. Naito E, Indo Y, Tanaka K. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest. 1990;85:1575-82 pubmed
    ..These C----T transitions result in the substitution of Arg-22 and Arg-83 of the mature SCAD with Trp and Cys, respectively. ..
  44. Schuler A, Gower B, Matern D, Rinaldo P, Wood P. Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation. Mol Genet Metab. 2004;83:322-9 pubmed
  45. Battisti C, Forte F, Molinelli M, Funghini S, Pasquini E, Tassini M, et al. A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. Neurol Sci. 2007;28:328-30 pubmed publisher
    ..The patient broadens the clinical phenotype of SCAD deficiency and underlines the difficulty of diagnosis. The limited number of patients described may be the result of underdiagnosis. ..
  46. Young S, Matern D, Gregersen N, Stevens R, Bali D, Liu H, et al. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta. 2003;337:103-13 pubmed
    ..Moderately reduced SCAD activity associated with SCAD variants can be detected using in vitro acylcarnitine profiling methods, which may be used as an indirect measure of SCAD activity. ..
  47. Thapa D, Zhang M, Manning J, Guimaraes D, Stoner M, O Doherty R, et al. Acetylation of mitochondrial proteins by GCN5L1 promotes enhanced fatty acid oxidation in the heart. Am J Physiol Heart Circ Physiol. 2017;313:H265-H274 pubmed publisher
    ..Here, we provide new evidence that acetylation of cardiac mitochondrial fatty acid oxidation enzymes by GCN5L1 significantly upregulates their activity in diet-induced obese mice. ..
  48. Hardy O, Hohmeier H, Becker T, Manduchi E, Doliba N, Gupta R, et al. Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents. Mol Endocrinol. 2007;21:765-73 pubmed
    ..Our results suggest a molecular explanation for the hyperinsulinemia hypoglycemic seen in patients with SCHAD deficiency. ..
  49. Asanuma N, Kawato M, Ohkawara S, Hino T. Characterization and transcription of the genes encoding enzymes involved in butyrate production in Butyrivibrio fibrisolvens. Curr Microbiol. 2003;47:203-7 pubmed
    ..These results confirm that acetate stimulates butyrate production by acting as a CoA acceptor in the butyryl-CoA/acetate CoA transferase reaction...
  50. Seidel J, Streck S, Bellstedt K, Vianey Saban C, Pedersen C, Vockley J, et al. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis. 2003;26:37-42 pubmed
    ..To our knowledge, this case is the first description of a patient with proven SCAD deficiency presenting with recurrent emesis but without other symptoms, and emphasizes the wide clinical phenotype of this disorder. ..
  51. Vengalil S, Preethish Kumar V, Polavarapu K, Christopher R, Gayathri N, Natarajan A, et al. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. Neuromuscul Disord. 2017;27:986-996 pubmed publisher
    ..Hitherto, unreported we describe "dropped head syndrome" as a prominent phenomenon in MCAD and VLCAD. The presence of ptosis and bulbar weakness in fatty acid oxidation defects expands the clinical spectrum. ..
  52. Nagan N, Kruckeberg K, Tauscher A, Bailey K, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab. 2003;78:239-46 pubmed
    ..0001). However, none of the observed genotypes was associated with a concentration of C(4)-acylcarnitine that would be consistent with a biochemical diagnosis of SCAD deficiency. ..
  53. Kang E, Kim Y, Kang M, Heo S, Kim G, Choi I, et al. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. BMC Pediatr. 2018;18:103 pubmed publisher
    ..However, severe clinical manifestations developed in some patients, indicating that careful, life-long observation is warranted in all FAODs patients. ..