• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). (medlineplus.gov)
  • Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. (medscape.com)
  • The flavoenzyme medium-chain acyl-CoA dehydrogenase (MCAD) eliminates the alpha-proton of the substrate analog, 3-thiaoctanoyl-CoA (3S-C8-CoA), to form a charge-transfer complex with deprotonated 3S-C8-CoA. (rcsb.org)
  • In 1983, Gregersen et al demonstrated a medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency in a patient with hypoketotic hypoglycemia. (medscape.com)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an autosomal recessively inherited disorder of ß-oxidation of fatty acids. (medicover-genetics.com)
  • MCAD deficiency is caused by pathogenic variants in the medium-chain acyl-CoA dehydrogenase gene ( ACADM ). (medicover-genetics.com)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common fatty acid ß-oxidation disorders. (statpearls.com)
  • Identify common presenting symptoms of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. (statpearls.com)
  • Summarize the importance of communication and coordination amongst the interprofessional team to enhance the care of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. (statpearls.com)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD or MCAD deficiency) is one of the most common mitochondrial fatty acid β-oxidation disorders and is typically caused by a mutation in the ACADM gene. (statpearls.com)
  • [1] The MCAD enzyme converts medium-chain fatty acyl-CoA into short-chain fatty acyl-CoA and acetyl CoA to provide the body with energy via ketones during times of fasting. (statpearls.com)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder that is primarily caused by a homozygous mutation of 985A→G in the ACADM gene in roughly 80% of clinically symptomatic patients. (statpearls.com)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Fatty acid oxidation disorders are lipid metabolism disorders that are caused by a lack or deficiency of the enzymes needed to break down fats, resulting in delayed mental and physical development. (msdmanuals.com)
  • For 60 years, newborn screening has tested for phenylketonuria, congenital hypothyroidism , congenital adrenal hyperplasia, sickle cell disease , cystic fibrosis and medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (medscape.com)
  • propose COSs for medium chain acyl-coA-dehydrogenase (MCAD) deficiency and phenylketonuria (PKU), two relatively common inborn errors of metabolism, to address the lack of uniform outcome variables in clinical research studies. (cdc.gov)
  • The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. (medlineplus.gov)
  • Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome. (medlineplus.gov)
  • Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. (medlineplus.gov)
  • Medium-chain acyl-CoA dehydrogenase deficiency in children with non- ketotic hypoglycemia and low carnitine levels. (medscape.com)
  • Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
  • Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. (medscape.com)
  • Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. (medscape.com)
  • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. (medscape.com)
  • Medium-chain acyl-coA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening. (medscape.com)
  • Abnormal screening in a healthy infant of a mother with undiagnosed medium-chain acyl-coA dehydrogenase deficiency. (medscape.com)
  • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. (medscape.com)
  • Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (medscape.com)
  • What Is the Prognosis for an Individual with Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency? (myriad.com)
  • The frequency of medium-chain acyl-CoA dehydrogenase deficiency can vary, with different studies publishing frequencies based on location. (statpearls.com)
  • Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
  • Scalais E, Bottu J, Wanders RJ, Ferdinandusse S, Waterham HR, De Meirleir L. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis. (medscape.com)
  • Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. (medscape.com)
  • Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (medscape.com)
  • Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. (medscape.com)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (medscape.com)
  • Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (medscape.com)
  • IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (medscape.com)
  • Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (medscape.com)
  • Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. (medscape.com)
  • MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. (medscape.com)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a condition in which the body is unable to break down certain fats. (babysfirsttest.org)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is estimated to affect one in 40,000 to 100,000 newborns. (babysfirsttest.org)
  • If your baby's newborn screening result for short-chain acyl-CoA dehydrogenase deficiency (SCAD) was out of the normal range, your baby's doctor or the state screening program will contact you to arrange for your child to have additional testing. (babysfirsttest.org)
  • Each child with short-chain acyl-CoA dehydrogenase deficiency (SCAD) has a different experience. (babysfirsttest.org)
  • Some children with short chain acyl-CoA dehydrogenase deficiency (SCAD) take prescription L-carnitine supplements. (babysfirsttest.org)
  • Children who are treated early for short-chain acyl-CoA dehydrogenase deficiency (SCAD) can have healthy growth and development. (babysfirsttest.org)
  • Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]. (bvsalud.org)
  • Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient. (harvard.edu)
  • Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency. (harvard.edu)
  • Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. (harvard.edu)
  • Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. (harvard.edu)
  • People with medium chain acyl-CoA dehydrogenase deficiency (MCADD) cannot burn fat for energy. (cdc.gov)
  • The new diseases are homocystinuria, maple syrup urine disease, tyrosinemia type 1, isovaleric acidemia, glutaric aciduria type I, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, and carnitine deficiency. (medscape.com)
  • Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. (medscape.com)
  • Very-Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder caused by mutations in the ACADVL gene. (myriad.com)
  • All three types of VLCAD deficiency are caused by an error in the production of an enzyme called very-long-chain acyl-coenzyme A dehydrogenase. (myriad.com)
  • Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase. (medscape.com)
  • Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. (medscape.com)
  • Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. (medscape.com)
  • To investigate the clinical manifestations, biochemical abnormalities and pathogenic variants among children with Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency detected by neonatal screening . (bvsalud.org)
  • [ 1 ] Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. (medscape.com)
  • Finally, the 625G→A single nucleotide polymorphism in the gene encoding the short chain acyl-coenzyme A dehydrogenase (SCAD) was previously proposed as a co-factor in the aetiology of EE and other EMA syndromes. (bmj.com)
  • The formation of lateral domains has been shown to be influenced by differences in phospholipid acyl chain unsaturation and length. (abo.fi)
  • Regulation of the intramitochondrial free CoA also is affected, with accumulation of acyl-CoA esters in the mitochondria. (medscape.com)
  • Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. (medscape.com)
  • This acyl-CoA is linked to carnitine by the action of CPT I, with simultaneous transport across the mitochondrial membrane barrier. (medscape.com)
  • Acyl-CoA synthetase family member 3, mitochondrial (EC 6.2.1. (joplink.net)
  • Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. (wikipedia.org)
  • BbsH, a member of the enoyl-CoA hydratase family, converts (E)-benzylidenesuccinyl-CoA to 2-(α-hydroxybenzyl)succinyl-CoA and was subsequently used in a coupled enzyme assay with BbsCD, which belongs to the short-chain dehydrogenases/reductase (SDR) family. (nih.gov)
  • Acyl-CoA Dehydrogenases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • This graph shows the total number of publications written about "Acyl-CoA Dehydrogenases" by people in Harvard Catalyst Profiles by year, and whether "Acyl-CoA Dehydrogenases" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Acyl-CoA Dehydrogenases" by people in Profiles. (harvard.edu)
  • Carnitine binds acyl residues and helps in their elimination, decreasing the number of acyl residues conjugated with coenzyme A (CoA) and increasing the ratio between free and acylated CoA. (medscape.com)
  • Once inside the mitochondrion, the action of CPT II at the inner surface of the membrane releases free carnitine, which exits to the cytosol and leaves behind the acyl-CoA molecule. (medscape.com)
  • C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. (medscape.com)
  • This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. (medlineplus.gov)
  • It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. (medscape.com)
  • In the cytosol, a saturated, straight-chain fatty acid molecule with no double bonds is activated by the action of fatty acyl-CoA synthetase to form its corresponding acyl-CoA. (medscape.com)
  • Because triglyceride is a relatively inert intracellular metabolite, it is likely that it serves more as a marker for other fatty acid-derived metabolites that actually mediate the insulin resistance, such as cytosolic long-chain acyl-CoA (LCACoA). (diabetesjournals.org)
  • Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. (medscape.com)
  • Membrane proteins implicated in long-chain fatty acid uptake by mammalian cells: CD36, FATP and FABPm. (springer.com)
  • Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. (harvard.edu)
  • Long-chain fatty acids (LCFAs) play important roles in cellular energy metabolism, acting as both an important energy source and signalling molecules1. (mcmaster.ca)
  • Cytochrome p450-dependent metabolism of ω-6 and ω-3 long-chain polyunsaturated fatty acids. (springer.com)
  • With attention focused on the definition of additional disorders, researchers described patients with a Reye syndrome-like presentation who excreted dicarboxylic acids of chain lengths C6-C10 in their urine. (medscape.com)
  • Now, we have investigated phospholipid-cholesterol interactions and their role in lateral segregation in ternary bilayers composed of different unsaturated phosphatidylcholines (PCs) with varying acyl chain lengths, N -palmitoyl-D- erythro -sphingomyelin (PSM), and cholesterol. (abo.fi)
  • CH 2 wagging progressions have been measured in the IR spectra for a series of saturated gel phase phosphatidylcholines (PC's) over the range of chain lengths diC 13 PC to diC 20 PC. (researchwithrutgers.com)
  • Sets of 4 enzymes (an acyl dehydrogenase, a hydratase, a hydroxyacyl dehydrogenase, and a lyase) specific for different chain lengths (very long chain, long chain, medium chain, and short chain) are required to catabolize fatty acids completely. (msdmanuals.com)
  • Lipids with longer acyl chains and a higher degree of unsaturation were altered more dramatically compared with shorter and more saturated lipids, suggesting a systematic and reversible lipid remodeling. (lu.se)
  • Substantially more disorder is observed (∼2-2.5 gauche rotamers/chain at 50°C). The various IR measurements of acyl chain conformational order are compared. (researchwithrutgers.com)
  • Also, a clear melting point disappeared by an addition of cholesterol for both SM and PC membranes while the conformational change of SM terminal chains observed in IR spectra may account for the difference in the depth dependent melting of SM as compared with PC. (nii.ac.jp)
  • The lack of these enzymes leaves the body short of energy and allows breakdown products, such as acyl-CoA, to accumulate. (msdmanuals.com)
  • Long-chain acylcarnitines are also toxic and may have an arrhythmogenic effect, causing sudden cardiac death. (medscape.com)
  • Entry into the beta-oxidation cycle requires the action of acyl-CoA dehydrogenase, the first enzyme in the sequence, which removes electrons from the alpha-carbon and the beta-carbon, introducing a double bond. (medscape.com)
  • Consequently, long-chain fatty acids are not available for beta-oxidation and energy production, and the production of ketone bodies (which are used by the brain) is also impaired. (medscape.com)
  • Erratum: Synthesis of glycerolipids containing simple linear acyl chains or aromatic rings and evaluation of their Mincle signaling activity (Chem. (elsevierpure.com)
  • Uptake of long chain fatty acids is regulated by dynamic interaction of FAT/CD36 with cholesterol/sphingolipid enriched microdomains (lipid rafts). (springer.com)
  • Cleavage of the 3-keto compound at the now unstable alpha-beta carbon bond and transfer of another CoA moiety to the new fragment results in 2 products: acetyl-CoA, composed of the carbonyl and original alpha-carbon from the starting molecule, and a new fatty acyl-CoA that is 2 carbons shorter than the original molecule. (medscape.com)
  • This study demonstrated that the major reductive metabolite of carbon-tetrachloride by cytochrome-P- 450 was the trichloromethyl free radical and that this free radical was able to bind to double bonds of fatty acyl chains of the phospholipids in the membrane surrounding cytochrome-P-450. (cdc.gov)
  • This enzyme is responsible for breaking down a type of fat known as very-long-chain fatty acids and converting it into energy. (myriad.com)
  • In addition, a buildup of very-long-chain fatty acids in the body can damage the heart, liver, and muscles, causing additional symptoms of the disease. (myriad.com)
  • In order for a cell to respond to changes in internal and external environmental factors, a broad range of protein co- and post-translational modifications have evolved to expand upon the relatively static properties encoded in protein side-chains. (biologists.com)
  • May have some preference toward very-long-chain substrates. (joplink.net)
  • Using deuterium NMR spectroscopy, we determined how PSM was influenced by the acyl chain composition in surrounding PC environments and correlated this with the affinity of cholestatrienol (a fluorescent cholesterol analog) for PSM in the different PC environments. (abo.fi)
  • is an enzyme with systematic name short-chain acyl-CoA:electron-transfer flavoprotein 2,3-oxidoreductase. (wikipedia.org)
  • This enzyme catalyses the following chemical reaction a short-chain acyl-CoA + electron-transfer flavoprotein ⇌ {\displaystyle \rightleftharpoons } a short-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein This enzyme contains FAD as prosthetic group. (wikipedia.org)
  • A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids . (online-medical-dictionary.org)
  • Increases in intramyocellular long-chain fatty acyl-CoAs (LCACoA) have been implicated in the pathogenesis of insulin resistance in skeletal muscle. (diabetesjournals.org)
  • The arrangement between the flavin ring and deprotonated 3S-C8-CoA is consistent with a charge transfer interaction with the negatively charged acyl-chain of 3S-C8-CoA as an electron donor stacking on the pyrimidine moiety of the flavin ring as an electron acceptor. (rcsb.org)
  • These are, in turn, transferred to the electron transport chain with the production of ATP. (medscape.com)
  • In the process, another electron transfer occurs, this time to nicotinamide-adenine dinucleotide (NAD), and more ATP is produced by passage down the electron transport chain. (medscape.com)
  • Growth on triolein stimulated increased enzyme activity, especially for acyl-CoA dehydrogenase. (microbiologyresearch.org)
  • 2010). Vertebrate fatty acyl desaturase with Δ4 activity. (springer.com)
  • Acyl-CoA dehydrogenase Medium-chain acyl-CoA dehydrogenase Butyryl-CoA (also known as butanoyl-CoA) Mahler HR (January 1954). (wikipedia.org)
  • Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. (medlineplus.gov)
  • Structure of the transition state analog of medium-chain acyl-CoA dehydrogenase. (rcsb.org)
  • [2] During these periods of fasting, gluconeogenesis is utilized via medium-chain acyl-CoA dehydrogenase to maintain blood glucose levels via the production of ketone bodies as acetyl-CoA accumulates. (statpearls.com)