*  The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario |...
Gregersen N, Bross P, Andresen BS: Genetic defects in fatty acid β-oxidation and acyl-CoA dehydrogenases: Molecular ... Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of mitochondrial fatty acid oxidation and is one of the ... Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of mitochondrial fatty acid oxidation and is one of the ... Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ: The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An ...
*  Free Genetics Flashcards about Metabolic Errors
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD). most common of fatty acid oxidation disorders, peak symptoms at 4-24 ... acyl-CoA dehydrogenases in progressive shortening of the fatty acid chain. • Fatty acid oxidation disorders Clinical features. ... Arginase deficiency (Argininemia). Urea cycle disorders Symptoms. caused by deficiency of enzymes in the urea cycle, which ... 10 known enzyme deficiencies produce 6 distinct MPS disorders.. Lysosomal storage diseases Examples. Hurler, Hunter and ...
*  Electron-transferring-flavoprotein dehydrogenase - Wikipedia
Deficiency in ETF dehydrogenase causes the human genetic disease multiple acyl-CoA dehydrogenase deficiency. ETQ-QO links the ... "Acyl-CoA dehydrogenases. A mechanistic overview". European Journal of Biochemistry / FEBS. 271 (3): 494-508. doi:10.1046/j.1432 ... The entire sequence of transfer reactions is as follows: Acyl-CoAAcyl-CoA dehydrogenase → ETF → ETF-QO → UQ → Complex III. ... Singla M, Guzman G, Griffin AJ, Bharati S (Mar 2008). "Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico- ...
*  Acyl CoA dehydrogenase - Wikipedia
It is reported that, every year, 1 in 20,000 infants is born with a deficiency in his/her medium-chain acyl-CoA dehydrogenases ... Acyl CoA Thorpe C, Kim JJ (June 1995). "Structure and mechanism of action of the acyl-CoA dehydrogenases". FASEB J. 9 (9): 718- ... "Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic ... "Mechanism of activation of acyl-CoA substrates by medium chain acyl-CoA dehydrogenase: interaction of the thioester carbonyl ...
*  ACADSB - Wikipedia
... an enzyme in the acyl CoA dehydrogenase family. It can cause short/branched-chain acyl-CoA dehydrogenase deficiency. The human ... and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism". American Journal of Human Genetics. 67 ... Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze ... "Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping". Human Genetics ...
*  ETFA - Wikipedia
"Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase". Biochem. Soc. Trans ... 2007). "Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency". ... flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl CoA dehydrogenase deficiencies result in ... displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with ...
*  ACAD8 - Wikipedia
"Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new ... ACAD8 functions as a homotetramer and has an overall structure is similar to other acyl-CoA dehydrogenases. The functional ... Mutations in ACAD8 have been linked to isobutyryl-CoA dehydrogenase deficiency. Most patients with isobutyryl-CoA dehydrogenase ... "Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA ...
*  Flavin adenine dinucleotide - Wikipedia
... such as for multiple acyl-CoA dehydrogenase deficiency. In addition, riboflavin deficiency itself (and the resulting lack of ... There are also redox flavoproteins that non-covalently bind to FAD like Acetyl-CoA-dehydrogenases which are involved in beta- ... short/branched-chain acyl-CoA dehydrogenase), valine (isobutyryl-CoA dehydrogenase), and lysine (glutaryl-CoA dehydrogenase). ... oxidation of fatty acids and catabolism of amino acids like leucine (isovaleryl-CoA dehydrogenase), isoleucine, ( ...
*  The influence of oxidation-reduction state on the kinetic stability of pig kidney general acyl-CoA dehydrogenase and other...
Pig kidney general acyl-CoA dehydrogenase is markedly stabilized against loss of flavin and activity in 7.3 M-urea or at 60 degrees C upon reduction with sodium dithionite or octanoyl-CoA. Electron transferring flavoprotein is similarly stabilized, whereas egg white riboflavin-binding protein loses flavin more readily on reduction. These and other data support the anticipated correlation between the kinetic stability of the holoproteins and the oxidation-reduction potential of their bound flavins. ...
*  acyl-CoA dehydrogenase deficiency
Vitamin B2 (Riboflavin) is one of the member of vitamin B complex found abundantly in Venison, Yogurt, Soybeans, Milk,Mushrooms, Spinach, Tempeh etc.. It plays an important role in converting foods (fats, ketone bodies, carbohydrates, and proteins) to energy. B. Vitamin B2 (Riboflavin) Vitamin B2 and short-chain acyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is …. ...
*  Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants
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. In the past, the majority of patients carried the prevalent c.985A|G mutation in the ACADM gene. Since the introduction of newborn screening many other mutations with unknown clinical relevance have been identified in asymptomatic newborns. In order to identify functional effects of these mutant genotypes we correlated residual MCAD (OMIM 607008) activities as measured by octanoyl-CoA oxidation in lymphocytes with both genotype and relevant medical reports in 65 newborns harbouring mutant alleles. We identified true disease-causing mutations with residual activities of 0 to 20%. In individuals carrying the c.199T|C or c.127G|A mutation on one allele, residual ...
*  77 Mutations of Human Medium-Chain Acyl-CoA Dehydrogenase | Biochemical Society Transactions
Thank you for your interest in spreading the word about Biochemical Society Transactions.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
*  Acyl CoA dehydrogenase deficiency synonyms, acyl CoA dehydrogenase ...
Synonyms for acyl CoA dehydrogenase deficiency in Free Thesaurus. Antonyms for acyl CoA dehydrogenase deficiency. 1 synonym for acyl: acyl group. What are synonyms for acyl CoA dehydrogenase deficiency?
*  EC
Accepted name: butyryl-CoA dehydrogenase. Accepted name: short-chain acyl-CoA dehydrogenase. Reaction: a short-chain acyl-CoA + electron-transfer flavoprotein = a short-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein. Glossary: a short-chain acyl-CoA = an acyl-CoA thioester where the acyl chain contains less than 6 carbon atoms.. Other name(s): butyryl-CoA dehydrogenase; butanoyl-CoA dehydrogenase; butyryl dehydrogenase; unsaturated ...
*  "Biochemical correction of short-chain acyl-coenzyme A dehydrogenase de" by Stuart G. Beattie, Eric Goetzman et al.
Recombinant adeno-associated viral vectors pseudotyped with serotype 5 and 8 capsids (AAV5 and AAV8) have been shown to be efficient gene transfer reagents for the liver. We have produced AAV5 and AAV8 vectors that express mouse short-chain acyl-CoA dehydrogenase (mSCAD) cDNA under the transcriptional control of the cytomegalovirus-chicken beta-actin hybrid promoter. We hypothesized that these vectors would produce sufficient hepatocyte transduction (after administration via the portal vein) and thus sufficient SCAD enzyme to correct the phenotype observed in the SCAD-deficient (BALB/cByJ) mouse, which includes elevated blood butyrylcarnitine and hepatic steatosis. Ten weeks after portal vein injection into 8-week-old mice, AAV8-treated livers contained acyl-CoA dehydrogenase activity (14.3 mU/mg) toward ...
*  Medical Home Portal - Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
Information, Tools, and Resources to aid Primary Care Physicians in caring for Children with Special Health Care Needs (CSHCN) and providing a Medical Home for all of their patients.
*  Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation | Biochemical Journal
Riboflavin deficiency in weanling rats causes a metabolic disorder characterized by failure to oxidize fatty acids. The disorder is similar to that seen in several human diseases, some of which are responsive to pharmacological doses of riboflavin. Previous analysis of the riboflavin-deficient rat has shown that the failure of fatty acid oxidation is due to a decrease in the activity of the acyl-CoA dehydrogenases of beta-oxidation. The activity of these flavoenzymes in liver rapidly decreases when a riboflavin-deficient diet is initiated. The objectives of these experiments were to analyse the effects of starvation on liver mitochondria isolated from the riboflavin-deficient rat. Our studies show that the decreased mitochondrial fatty acid oxidation induced by riboflavin deficiency is partially reversed by starvation. The extent of this reversal is proportional to the duration of ...
*  Free Energy Surface, Reaction Paths, and Kinetic Isotope Effect of Short-Chain Acyl-CoA Dehydrogenase
Close The Infona portal uses cookies, i.e. strings of text saved by a browser on the user's device. The portal can access those files and use them to remember the user's data, such as their chosen settings (screen view, interface language, etc.), or their login data. By using the Infona portal the user accepts automatic saving and using this information for portal operation purposes. More information on the subject can be found in the Privacy Policy and Terms of Service. By closing this window the user confirms that they have read the information on cookie usage, and they accept the privacy policy and the way cookies are used by the portal. You can change the cookie settings in your browser. ...
*  Acyl-CoA dehydrogenase, very long chain, deficiency of (Symptoms, signs, causes, treatments & definition) - Medigest
Looking for information on Acyl-CoA dehydrogenase, very long chain, deficiency of? Medigest has all you need to know about Acyl-CoA dehydrogenase, very long chain, deficiency of - Symptoms and Signs, Causes, Treatments and definition
*  Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual...
Sudden infant death syndrome (SIDS) is a multifactorial disorder influenced by developmental, environmental, and biological risk factors and it is defined as the sudden death of an infant that is unexpected by history and unexplained by postmortem examinations. SIDS is a leading cause of infant mortality, accounting for 8% of all infant deaths[4] and it is the most common cause of post neonatal infant mortality accounting for 40-50% of all deaths between one month and one year of age. Cases in which instead the cause is identified should be diagnosed not as SIDS but as SUDI, such as in specific genetic conditions. At present, long QT syndrome and fatty acid β-oxidation disorders represent the most frequent inherited causes of SUDI[1].. Long QT syndrome is caused by mutations in genes encoding cardiac ion channels (such as KVLQT1, HERG, KCNE1, and KCNE2) leading to prolonged cardiac action potential by either increasing depolarization or decreasing repolarization current and so causing syncope, ...
*  Michael J. Bennett, PhD - AACC.org
Dr. Bennett is professor of pathology and laboratory medicine at the University of Pennsylvania and director of the metabolic disease laboratory at The Children's Hospital of Philadelphia. He also holds the Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology at The Children's Hospital of Philadelphia. The main focus of Dr. Bennett's research has been the investigation of inborn errors of mitochondrial energy metabolism with a special emphasis on disorders of fatty acid metabolism. He was among the first to describe the fatal clinical phenotype and the first to identify neonatal metabolite abnormalities in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. These observations led to the expansion of newborn screening by tandem mass spectrometry, in which most newborns are now screened for MCAD deficiency and a number of other inborn errors of metabolism. He is ...
*  Plus it
The present study confirms the stimulating effect of both PGC-1α and PGC-1β expression on oxidative metabolism (21, 29, 52). This is most obviously seen by the increase in CS activity and mRNA expression and is corroborated by the enhanced expression of short-chain acyl-CoA dehydrogenase on day 9 of culture (Figs. 2 and 4). The decrease in CK activity in PGC-1α- and PGC-1β-transduced cultures may also suggest a change toward a slow oxidative phenotype, since the CK activity was found to be lower in slow oxidative soleus muscle than in fast glycolytic EDL muscle of young rats (Table 2). Although this difference diminished with age, the properties of the muscle cell cultures prepared from neonatal myoblasts probably reflect those of younger rather than older rats. CK activity has also been reported to be significantly higher in fast glycolytic than in slow oxidative muscle fibers (59), although others find no difference (9). ...
*  Medium-chain acyl-coenzyme A dehydrogenase deficiency - SNPedia
MCADD is inherited in an autosomal recessive manner, meaning an affected individual must inherit a mutated allele from both of their parents. ACADM is the gene involved, located at 1p31, with 12 exons and coding for a protein of 421 amino acids. There is a common mutation, rs77931234(C) (in dbSNP orientation), among Northern European Caucasians, which results in a lysine being replaced by a glutamic acid at position 304 of the protein (note: numbering may vary depending on reference). Other mutations have been identified more commonly since newborn screening has expanded the mutation spectrum. The 985A,G (rs77931234C) common mutation is present in the homozygous state in 80% of Caucasian individuals who presented clinically with MCADD and in 60% of the population identified by screening.Wikipedia ...
*  Eboo Works, Saves, Knits,and Lives: Having a Child with MCAD (Medium Chain Acyl Co-A Dehydrogenase Deficiency)
Hello! Hey there! My daughter has MCADD too! I swear that I searched for parent blogs with MCADD after my Hannah was born 2 1/2 years ago and I found nothing - now I just found 3 and I am delighted. Hannah is not one of the luckiest of MCADD kids - she had an actual metabolic crisis at just three days of age and so had a stroke and now has right hemiplegia, but CP doesn't hold her back much, she is a therapy success story in every way. And if anyone who has found you has an older child I am very interested in connecting to them too - I'd love to find a parent who could tell me how to beat that whole refusing to eat game! You can read about Hannah at http://gas-food-lodging.blogspot.com/ We'd love to keep in touch.. ReplyDelete ...
*  ACAD9 Full-Length MS Protein Standard - Creative Proteomics
ACAD9 Full-Length MS Protein Standard (NP_054768), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.
*  Acadvl - Very long-chain-specific acyl-CoA dehydrogenase, mitochondrial - Mus musculus (Mouse) - Acadvl gene & protein
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
*  Case based learning: Oxidation of Fatty Acids - howMed
Symptoms of MCAD deficiency start appearing at approx from 2nd month to 2nd year but in some case on 2nd day of birth. Causes of this includes following reasons:. 1. During first few days after pregnancy, breast milk contain mainly colostrum which is rich in protein and required for functioning of digestive tract. As the time progress the fatty content of breast milk become more fatty up to 55% of fats it contains. thats why symptoms starts appearing after approximately 2 month. ...
*  ACAD10 Gene - GeneCards | ACD10 Protein | ACD10 Antibody
Complete information for ACAD10 gene (Protein Coding), Acyl-CoA Dehydrogenase Family Member 10, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
*  anti-ACADM antibody | GeneTex
ACADM antibody (acyl-CoA dehydrogenase, C-4 to C-12 straight chain) for ICC/IF, IHC-P, WB. Anti-ACADM pAb (GTX100032) is tested in Human samples. 100% Ab-Assurance.
*  MCADCafe: DesignShowcase
MCADCafe.com delivers the latest MCAD industry commentary, news, product reviews, articles, events and resources from a single, convenient point. We provide our users a constantly updated view of the entire world of MCAD that allows them to make more timely and informed decisions.
*  Welcome to MCADCafe - What's New on MCADCafe
MCADCafe.com delivers the latest MCAD industry commentary, news, product reviews, articles, events and resources from a single, convenient point. We provide our users a constantly updated view of the entire world of MCAD that allows them to make more timely and informed decisions.