OBJECTIVES: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of the fatty acid oxidative metabolism. (bvsalud.org)
Carnitine5
Complications can involve acidosis or hypoglycemia, with other symptoms such as general weakness, liver enlargement, increased heart failure, and carnitine deficiency. (wikipedia.org)
In 1973, carnitine palmitoyltransferase (CPT) deficiency became the first fatty acid metabolism condition to be defined. (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)
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)
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 deficiency is the most common defect in the beta-oxidation cycle. (msdmanuals.com)
Enzyme5
Electron-transferring-flavoprotein dehydrogenase (ETF dehydrogenase or electron transfer flavoprotein-ubiquinone oxidoreductase, EC 1.5.5.1) is an enzyme that transfers electrons from electron-transferring flavoprotein in the mitochondrial matrix, to the ubiquinone pool in the inner mitochondrial membrane. (wikipedia.org)
The ACADSB gene provides instructions for making an enzyme called short/branched chain acyl-CoA dehydrogenase (SBCAD, also known as 2-methylbutyryl-CoA dehydrogenase), which plays an important role in processing proteins. (medlineplus.gov)
Specifically, this enzyme helps with the third step of the process, performing a chemical reaction that converts a molecule called 2-methylbutyryl-CoA to another molecule, tiglyl-CoA. (medlineplus.gov)
Through similar chemical reactions, the SBCAD enzyme also aids in the breakdown of other amino acids. (medlineplus.gov)
With a shortage (deficiency) of normal enzyme activity, the body is unable to break down isoleucine properly. (medlineplus.gov)
Fatty5
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 next step is the introduction of a water molecule and resaturation of the double bond to form fatty enoyl-CoA. (medscape.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)
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)
Gene1
Researchers have identified more than 10 ACADSB gene mutations in people with short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency. (medlineplus.gov)
CHAIN1
In 1983, Gregersen et al demonstrated a medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency in a patient with hypoketotic hypoglycemia. (medscape.com)
Sequence1
The entire sequence of transfer reactions is as follows: Acyl-CoA → Acyl-CoA dehydrogenase → ETF → ETF-QO → UQ → Complex III. (wikipedia.org)
The overall reaction catalyzed by ETF-QO is as follows: ETF-QO(red) + ubiquinone ↔ ETF-QO(ox) + ubiquinol Enzymatic activity is usually assayed spectrophotometrically by reaction with octanoyl-CoA as the electron donor and ubiquinone-1 as the electron acceptor. (wikipedia.org)
Oxidation5
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. (nih.gov)
Oxidation of the hydroxyl substituent group on the beta-carbon creates an inherently unstable beta-ketoacyl-CoA compound. (medscape.com)
Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. (nih.gov)
This deficiency is the most common defect in the beta-oxidation cycle. (msdmanuals.com)
Enzymes7
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)
It was the discovery of enzymes at the beginning of the 20th century by Eduard Buchner that separated the study of the chemical reactions of metabolism from the biological study of cells, and marked the beginnings of biochemistry . (medmuv.com)
The primary enzymes of alcohol metabolism are alcohol dehydrogenase (ADH), cytochrome p450 (CYP2E1) and, to a lesser extent, catalase, enzymes that primarily reside in the cytoplasm, the endoplasmic reticulum (ER) and the peroxisome, respectively. (nih.gov)
Enzymes are similar to catalysts in their chemical ability to speed up reactions without themselves being changed or consumed. (biologyonline.com)
In these reactions, enzymes may or may not function alone, enzymes may need the assistance of a cofactor . (biologyonline.com)
Although coenzymes activate enzymes they are not considered as substrates of the reaction. (biologyonline.com)
In its diphosphate form (also known as TDP, thiamine pyrophosphate, TPP, or cocarboxylase), it serves as a cofactor for enzymes involved in carbohydrate metabolism, including transketolase, α-ketoglutarate dehydrogenase, pyruvate dehydrogenase, and branched chain α-keto acid dehydrogenase. (ferienwohnung-gluecksburg.net)
AN - infection: coord IM with ACTINOBACILLUS INFECTIONS (IM) HN - 2004 MH - Acyl-CoA Dehydrogenase UI - D042964 MN - D8.811.682.675.150.100 MN - D12.776.331.99 MS - A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. (nih.gov)
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 next step is the introduction of a water molecule and resaturation of the double bond to form fatty enoyl-CoA. (medscape.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)
Chain2
Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. (nih.gov)
In 1983, Gregersen et al demonstrated a medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency in a patient with hypoketotic hypoglycemia. (medscape.com)
Fibroblasts1
If one ACADVL pathogenic variant is found and suspicion of VLCAD deficiency is high, specialized biochemical testing using cultured fibroblasts or lymphocytes may be needed for confirmation of the diagnosis. (nih.gov)
Diseases1
Thiamine (vitamin B1) is required in the diet of animals, and thiamine deficiency leads to diseases such as beri-beri and the Wernicke-Korsakoff syndrome. (ferienwohnung-gluecksburg.net)
Metabolism4
The word metabolism can also refer to all chemical reactions that occur in living organisms, including digestion and the transport of substances into and between different cells, in which case the set of reactions within the cells is called intermediary metabolism or intermediate metabolism. (medmuv.com)
The history of the scientific study of metabolism spans several centuries and has moved from examining whole animals in early studies, to examining individual metabolic reactions in modern biochemistry. (medmuv.com)
Metabolism is a term that is used to describe all chemical reactions involved in maintaining the living state of the cells and the organism. (medmuv.com)
Metabolism refers to the highly integrated network of chemical reactions by which living cells grow and sustain themselves. (medmuv.com)
Thiamin1
As a result, it displaces normal nutrients, leading to malnutrition and vitamin deficiencies including folate, thiamin, vitamin A and others. (nih.gov)
Enzymatic2
The overall reaction catalyzed by ETF-QO is as follows: ETF-QO(red) + ubiquinone ↔ ETF-QO(ox) + ubiquinol Enzymatic activity is usually assayed spectrophotometrically by reaction with octanoyl-CoA as the electron donor and ubiquinone-1 as the electron acceptor. (wikipedia.org)
The latter components regulate enzymatic activity by interconverting the dehydrogenase between active (nonphosphorylated) and inactive (phosphorylated) forms involving three specific serine residues that participate in TPP binding. (ferienwohnung-gluecksburg.net)
Functional2
Both reactions are below: Octanoyl-CoA + Q1 ↔ Q1H2 + Oct-2-enoyl-CoA 2 ETF1- ↔ ETFox + ETF2- ETF-QO consists of one structural domain with three functional domains packed in close proximity: a FAD domain, a 4Fe4S cluster domain, and a UQ-binding domain. (wikipedia.org)
The main function of the coenzyme is to act as an intermediate carrier of transferred electrons or functional groups in a reaction. (biologyonline.com)
Disorder1
Deficiency of ETF-QO results in a disorder known as glutaric acidemia type II (also known as MADD for multiple acyl-CoA dehydrogenase deficiency), in which there is an improper buildup of fats and proteins in the body. (wikipedia.org)
These biological reactions include carboxyl group transfer, peptide linkage hydrolysis, breaking carbon bonds, and the conversion of substances to their optical isomers . (biologyonline.com)
This discovery, along with the publication by Friedrich Wöhler in 1828 of the chemical synthesis of urea , notable for being the first organic compound prepared from wholly inorganic precursors, proved that the organic compounds and chemical reactions found in cells were no different in principle than any other part of chemistry. (medmuv.com)
Chemical2
Additional chemical reactions convert tiglyl-CoA into molecules that are used for energy. (medlineplus.gov)
and the tertiary, or maturation bouquet that results from chemical reactions during wine ageing. (moam.info)
Products1
Coenzymes are not specific to substrates, instead, they act as a carrier to the reaction products. (biologyonline.com)
Specific1
The diagnosis of VLCAD deficiency is established in a proband with a specific pattern of abnormal acylcarnitine levels on biochemical testing and/or by identification of biallelic pathogenic variants in ACADVL on molecular genetic testing . (nih.gov)