In 1983, Gregersen et al demonstrated a medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency in a patient with hypoketotic hypoglycemia. (medscape.com)
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
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)
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: evaluation of genotype-phenotype correlation in patients detected by newborn screening. (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 a condition that prevents the body from converting certain fats into energy, particularly during periods without food (fasting). (medlineplus.gov)
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)
In humans, acetoacetyl-CoA is involved in the metabolic disorder called the short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) pathway. (hmdb.ca)
These disorders include, but are not limited to, phenylketonuria (PKU), galactosemia, maple syrup urine disease (MSUD), and medium chain acyl-CoA dehydrogenase (MCAD) deficiency. (delaware.gov)
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. (cdc.gov)
Maple syrup urine disease is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs. (medscape.com)
Carnitine-acylcarnitine translocase deficiency (CACT) typically presents in an autosomal-recessive fashion with seizures, apnea, and an irregular heart beat in the neonatal period (although presentation can occur as late as age 15 months) and results from mutations in the CACT protein ( SLC25A20 gene), a carnitine-acylcarnitine exchanger on the inner mitochondrial membrane. (medscape.com)
MCAD2
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)
The crystalline complex was obtained by co-crystallizing MCAD in the oxidized form with 3S-C8-CoA. (rcsb.org)
Enzyme8
In enzymology, an acyl-CoA dehydrogenase (NADP+) (EC 1.3.1.8) is an enzyme that catalyzes the chemical reaction acyl-CoA + NADP+ ⇌ {\displaystyle \rightleftharpoons } 2,3-dehydroacyl-CoA + NADPH + H+ Thus, the two substrates of this enzyme are acyl-CoA and NADP+, whereas its 3 products are 2,3-dehydroacyl-CoA, NADPH, and H+. (wikipedia.org)
The systematic name of this enzyme class is acyl-CoA:NADP+ 2-oxidoreductase. (wikipedia.org)
The deprotonated 3S-C8-CoA was clearly located within the active-site cleft of the enzyme. (rcsb.org)
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)
This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. (medlineplus.gov)
It is a substrate for succinyl-CoA:3-ketoacid-coenzyme A transferase, hydroxymethylglutaryl-CoA synthase, short-chain 3-hydroxyacyl-CoA dehydrogenase, peroxisomal bifunctional enzyme, acetyl-CoA acetyltransferase, and 3-ketoacyl-CoA thiolase. (hmdb.ca)
g) "Metabolic disorder" means a disorder caused by a genetic alteration, which results in a defect in the structure or function of a specific enzyme or other protein. (delaware.gov)
[ 7 ] The branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex was purified and characterized in 1978. (medscape.com)
Specific acyl-CoA dehydroge1
Season-dependent differentially phosphorylated proteins were identified via MALDI-TOF/TOF MS (F1-ATPase α-chain, long-chain specific acyl-CoA dehydrogenase, ornithine transcarbamylase) and potential hibernation-specific roles are discussed. (uwo.ca)
Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. (nature.com)
A defective gene and its protein product leads to thick sticky mucus. (nsu.govt.nz)
The aim of this study was to clone the mRNA sequence of the Acyl-CoA dehydrogenase long chain ( ACADL ) gene of goats and explore the effect of ACADL on the differentiation of subcutaneous fat cells on this basis. (animbiosci.org)
Carnitine2
This acyl-CoA is linked to carnitine by the action of CPT I, with simultaneous transport across the mitochondrial membrane barrier. (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)
Coenzyme1
Long-chain acyl coenzyme A dehydrogenase (ACADL) is the first step in catalytic fatty acid oxidation and plays an important role in long-chain fatty acid oxidation including expression regulation and activity regulation. (animbiosci.org)
Acetyl CoA2
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)
These are further metabolized to yield acetyl-CoA, acetoacetate, and succinyl-CoA. (medscape.com)
Synthetase2
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)
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)
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. (medscape.com)
MCADD1
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. (medscape.com)
Aciduria1
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. (medscape.com)
Disorders1
It is worth noting that we have found the key upstream target of DOX-induced HF, PTP1B, which inhibits the expression of HIF-1α by inhibiting the phosphorylation of IRS, leading to disorders of fatty acid metabolism and glycolysis, which together with the decrease of Nrf2, SOD, Cytc, and AK4 proteins lead to oxidative stress. (frontiersin.org)
Deficiencies1
Mutations in E3 cause additional deficiencies of pyruvate and alpha-ketoglutarate dehydrogenases. (medscape.com)
Enoyl1
The next step is the introduction of a water molecule and resaturation of the double bond to form fatty enoyl-CoA. (medscape.com)
Metabolic1
Changes in protein phosphorylation among hibernation-specific metabolic stages do not correlate with mitochondrial respiration. (uwo.ca)
Differentially1
Proteomics analyses resulted in the identification of 130 spots corresponding to a total of 108 differentially expressed proteins. (biomedcentral.com)
Acetoacetyl-CoA is an intermediate in the metabolism of butanoate. (hmdb.ca)
Liver2
It is not known what causes this pregnancy specific liver condition but some feel it is a variant of pre-eclampsia (raised blood pressure and protein in the urine caused by pregnancy). (britishlivertrust.org.uk)
I hypothesized that this pattern of rapid suppression of liver mitochondrial metabolism with gradual reversal, was related to changes in the phosphorylation state of Ictidomys tridecemlineatus ' mitochondrial proteins in different stages of torpor bouts. (uwo.ca)
Genes2
Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
185 genes in signature reported in the publication with PubMedID mRNA_KAT5_22196727 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. (maayanlab.cloud)
Receptor1
The detection results in the activation and interplay of the seven main signalling cascades: the p38 mitogen-activated protein kinase (MAPK), the insulin-like receptor (ILR), the Toll-like receptor (TLR), a transforming growth factor-b (TGF-b), the programmed cell death (PCD), the extracellular signal-regulated kinase (ERK) and a c-Jun N-terminal kinase (JNK). (biomedcentral.com)