Protein acyl coa dehydrogenase enzyme. Medical search. Frequent questions

Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)

It has also been linked to an inherited enzyme deficiency called long chain acyl-CoA dehydrogenase (LCHAD) in the baby. (britishlivertrust.org.uk)
Researchers have identified more than 10 ACADSB gene mutations in people with short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency. (medlineplus.gov)
With a shortage (deficiency) of normal enzyme activity, the body is unable to break down isoleucine properly. (medlineplus.gov)
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)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency), amino acid disorders (e.g. (luriechildrens.org)
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)
Children who have a fatty acid oxidation disorder are missing or have a deficiency of the enzymes needed to break down (metabolize) fats. (msdmanuals.com)
and mitochondrial trifunctional protein (TFP) deficiency. (msdmanuals.com)
Affected infants with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, which is inherited as an autosomal recessive trait, present in infancy with acute hypoketotic hypoglycemia. (medscape.com)
Some patients who are deficient in all 3 enzymatic activities of the protein have been described, although most have an isolated long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, which results in the inability to metabolize long-chain fatty acids. (medscape.com)
Patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency may develop a profound CNS deficiency of docosahexanoic acid ethyl ester (DHA), 22:6n-3. (medscape.com)
The etiology of the severe peripheral neuropathy of trifunctional protein deficiency may result from the unique metabolite, 3-keto-acyl-CoA, after conversion to a methylketone via spontaneous decarboxylation. (medscape.com)
Occurrence frequency of either isolated long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity deficiency or trifunctional protein deficiency is unknown in the United States. (medscape.com)
Patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity deficiency usually present with hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly at a median age of 6 months. (medscape.com)
An enzyme is missing resulting in a deficiency in biotin. (nsu.govt.nz)
Glutaric acidemia type II is caused by a deficiency in either of these two enzymes. (medlineplus.gov)
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. (medlineplus.gov)
To illustrate the functional consequences, we show that simulations with the curated model - unlike simulations with earlier Recon versions - correctly predict the metabolic impact of multiple-acyl-CoA-dehydrogenase deficiency as well as of systemic flavin-depletion. (wur.nl)
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)
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 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)
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. (medscape.com)
Abnormal screening in a healthy infant of a mother with undiagnosed medium-chain acyl-coA dehydrogenase deficiency. (medscape.com)
Child Neurology: medium-chain acyl-coenzyme A 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)
We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (rhea-db.org)
Taken together, the results obtained show that in both patients, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is caused by an abnormality in the trifunctional protein, even though there is a heterogeneity in both patients. (rhea-db.org)
Deficiency of SBCAD leads to accumulation of its substrate, 2-methylbutyryl-CoA within the mitochondrion. (hmdb.ca)
17883863 ). 2-methylbutyrylglycine has also been found in the urine of patients with propionyl-CoA carboxylase deficiency after consuming isoleucine. (hmdb.ca)
Short-chain acyl-coenzyme A dehydrogenase deficiency. (harvard.edu)
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. (harvard.edu)
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)
Neonatal screening for 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)
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)
Mucopolysaccharidosis type II (MPS-II, Hunter syndrome, OMIM:30990) is a lysosomal storage disorder (LSD) that results in iduronate 2-sulphatase (I2S) enzyme deficiency. (cdc.gov)

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)
Moreover, the FAO enzyme very-long-chain acyl-CoA dehydrogenase physically interacted with TFP, thereby creating a multifunctional energy protein complex. (oroboros.at)
Hydroxyacyl-CoA Dehydrogenase (HADHA) and Long Chain Acyl-CoA Dehydrogenase (LCAD) catalyze the oxidation of long chain fatty acids, whereas pyruvate dehydrogenase (PDH) catalyzes glucose oxidation in the heart. (wvu.edu)
Short-chain acyl-CoA dehydrogenase (SCAD) activity in muscle was normal as were mitochondrial OXPHOS enzyme activities in cultured skin fibroblasts. (nih.gov)

We found that the FAO trifunctional protein (TFP) interacts with the NADH-binding domain of complex I of the ETC, whereas the electron transfer enzyme flavoprotein dehydrogenase interacts with ETC complex III. (oroboros.at)
1990). BCKDC catalyzes oxidative decarboxylation from the BCKA items from the BCAT response, forming NADH as well as the particular branched-chain acyl CoA derivative of every BCAA. (woofahs.com)

Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. (medscape.com)

Enoyl-(Acyl carrier protein) reductase [Interproscan]. (ntu.edu.sg)

The substrate-binding pocket is filled with a string of three water molecules, which gets displaced when the substrate binds to the enzyme. (wikipedia.org)
It first binds glutaryl-CoA substrate to the oxidized form of the enzyme and abstracts the alpha-proton of the substrate by the Glu370 catalytic base. (wikipedia.org)
VLCAD is a homodimer containing a FAD cofactor that is the first step in the mitochondrial matrix for oxidation of the acyl-CoA substrate. (oroboros.at)
Despite recent progresses in uncovering the biology underlying age-related diseases, and improvements in research focused on the molecular mechanisms of age-related diseases, our knowledge of the cellular mechanisms that regulate key mitochondrial energy substrate enzymes in the aging heart is greatly underdeveloped. (wvu.edu)
Crystal structures to 2.2 A resolution or better of enzyme complexes with bound substrates and of a trapped substrate-flavin adduct are described. (rcsb.org)
The structure of the D402N enzyme crystallized in the presence of 1-nitrohexane or 1-nitrooctane shows the presence of the substrate in the binding site. (rcsb.org)
The aliphatic chain of the substrate extends into a tunnel leading to the enzyme surface. (rcsb.org)
Comparison of the stability and substrate specificity of purified peroxisomal 3-oxoacyl-CoA thiolases A and B from rat liver. (rhea-db.org)
the substrate typically catalyzed by the enzyme might accumulate to toxic levels. (newworldencyclopedia.org)
a) Enzymes that catalyse the removal of hy-drogen from a substrate but use only oxy-gen as a hydrogen acceptor to form water as a reaction product (with the exception of uricase and monoamine oxidase which form H 2 O 2 ). (biologydiscussion.com)

Glutaryl-CoA dehydrogenase (GCDH) is an enzyme encoded by the GCDH gene on chromosome 19. (wikipedia.org)

GCDH is mainly known for the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and carbon dioxide, which is common in the mitochondrial oxidation of lysine, tryptophan, and hydroxylysine. (wikipedia.org)
Thus, the clinical features may result from either toxicity due to long-chain acyl-CoA esters that cause cardiomyopathy and cardiac arrhythmias or from a block in long-chain fatty acid oxidation that leads to an inability to synthesize ketone bodies and/or adenosine triphosphate from long-chain fatty acids. (medscape.com)
Thapa D , Manning JR, Mushala BAS, Stoner MW, Zhang M, Scott I. Increased fatty acid oxidation enzyme activity in the hearts of mice fed a high fat diet does not correlate with improved cardiac contractile function. (wvu.edu)
The structure of the enzyme trapped with cyanide during oxidation of 1-nitrohexane shows the presence of the modified flavin. (rcsb.org)
His Enzyme, Fatty acid, Mitochondrion, Pristanic acid and Alpha oxidation investigations are all subjects of Biochemistry research. (research.com)
In view of the absence of client dehydrogenases, for example, the acyl-CoA dehydrogenases involved in the β-oxidation of fatty acids, d-lactate dehydrogenase 2 (Dld2) appeared to be the only relevant enzyme that is serviced by yETF for electron transfer to the mitochondrial electron transport chain. (elsevierpure.com)
Enzymes that catalyze the first step in the beta-oxidation of FATTY ACIDS. (harvard.edu)
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. (harvard.edu)
In people with MSUD, the oxidation of BCAAs is certainly inhibited and, as a result, consumption of BCAAs above the daily requirement of proteins synthesis causes deposition of BCAAs and their BCKAs to dangerous amounts (Chuang and Shih, 2001). (woofahs.com)
An NAD-dependent enzyme that catalyzes the oxidation of acyl-[acyl-carrier protein] to trans-2,3-dehydroacyl-[acyl-carrier protein]. (bvsalud.org)
[ 12 ] The activity of key mitochondrial enzymes of the tricarboxylic acid cycle, β-oxidation, and the electron transport system, conversely, were unchanged, [ 12 ] leaving many unanswered questions regarding the effects of CR on muscle-specific mitochondrial function in humans. (medscape.com)

C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. (medscape.com)

10% of that in control cells, due to a very rapid degradation of protein newly synthesized in the mitochondria. (rhea-db.org)

The other 2 activities of the protein are 2-enoyl coenzyme A (CoA) hydratase (LCEH) and long-chain 3-ketoacyl CoA thiolase (LCKT). (medscape.com)
The diminution of trifunctional protein was associated with a decreased activity of enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase, when measured using medium-chain to long-chain substrates. (rhea-db.org)

It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and carbon dioxide in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. (wikipedia.org)
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)
Bennett MJ, Russell LK , Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, and Strauss AW.Â Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short- chain L-3-hydroxy-acyl-CoA dehydrogenase.Â Molecular Genetics and Metabolism 89:74-79 (2006). (slu.edu)
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. (medscape.com)
Cellular metabolism consists of numerous interconnected pathways that are catalyzed by enzymes in a series of stepwise biochemical reactions. (newworldencyclopedia.org)
Cellular metabolism, involving the synthesis and breakdown of complex organic molecules, requires harmonious coordination of the various enzymes, biochemical reactions, and so forth. (newworldencyclopedia.org)
The instructions for building nearly all the enzymes involved in metabolism are stored as deoxyribonucleic acid (DNA) in the nucleus of the cell. (newworldencyclopedia.org)
In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
d) It is highly significant in the liver and kid-neys of birds which excrete uric acid as the end product of purine metabolism and also of protein and amino acid catabolism. (biologydiscussion.com)
Insulin signaling affects multiple downstream pathways including mitogen-activated protein kinase (MAPK), which controls growth, sterol regulatory element-binding protein 1 (SREBP-1), which stimulates the synthesis of lipid and cholesterol as well as the family of Forkhead (FOXO) transcription factors regulating metabolism and autophagy [ 9 ] [ 10 ] . (encyclopedia.pub)
Liver, muscle, and intestine tissue samples were taken to measure mRNA expression of key genes involved in glucose, lipid, and protein metabolism. (frontiersin.org)
However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism, such as propionic acidemia. (hmdb.ca)
In the mind, metabolism of the fundamental branched chain proteins (BCAAs) leucine, isoleucine, and valine, is governed partly by protein synthesis requirements. (woofahs.com)
Transcriptome sequencing revealed that all homologs induced the same general patterns with a drastic shift in gene expression profiles of leaves from that of a typical source tissue to a source-limited sink-like tissue: Transcripts encoding enzymes for plastid uptake and metabolism of phosphoenolpyruvate, fatty acid and oil biosynthesis were up-regulated, as were also transcripts encoding starch degradation. (biomedcentral.com)

The SBCAD enzyme helps break down a particular amino acid called isoleucine. (medlineplus.gov)
Maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria, is an aminoacidopathy due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. (medscape.com)

The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase. (medlineplus.gov)

short chain dehydrogenase [Interproscan]. (ntu.edu.sg)

The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions. (research.com)
These are further metabolized to yield acetyl-CoA, acetoacetate, and succinyl-CoA. (medscape.com)

protein_coding" "AAC74323","adhE","Escherichia coli","fused acetaldehyde-CoA dehydrogenase/iron-dependent alcohol dehydrogenase/pyruvate-formate lyase deactivase [Ensembl]. (ntu.edu.sg)
Aldehyde dehydrogenase family, Iron-containing alcohol dehydrogenase [Interproscan]. (ntu.edu.sg)

Mutations in the GCDH gene can lead to defects in the enzyme encoded by it which leads to the formation and accumulation of the metabolites glutaric acid and 3-hydroxyglutaric acid as well as glutarylcarnitine in body fluids, which essentially leads to glutaric aciduria type I, an autosomal recessive metabolic disorder. (wikipedia.org)
Many of the ACADSB gene mutations replace one of the amino acids in the SBCAD enzyme with an incorrect amino acid. (medlineplus.gov)
Other mutations lead to an abnormally small version of this enzyme that is missing several amino acids. (medlineplus.gov)
People with mutations that result in a complete loss of either enzyme produced from the ETFA , ETFB or ETFDH genes are likely to experience the most severe symptoms of glutaric acidemia type II. (medlineplus.gov)
Mutations that allow the enzyme to retain some activity may result in milder forms of the disorder. (medlineplus.gov)
Mutations in the genes encoding these proteins cause severe phenotypes, including a lack of energy supply and accumulation of toxic intermediates. (wur.nl)
Mutations in E3 cause additional deficiencies of pyruvate and alpha-ketoglutarate dehydrogenases. (medscape.com)
[ 10 ] Mutations in the regulatory enzymes have not been reported. (medscape.com)

The lack of these enzymes leaves the body short of energy and allows breakdown products, such as acyl-CoA, to accumulate. (msdmanuals.com)
When one of the enzymes is defective or missing, partially broken down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II. (medlineplus.gov)

The E3 component is associated with 2 additional alpha-ketoacid dehydrogenase complexes, namely pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase. (medscape.com)

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)
The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. (medlineplus.gov)

eg PKU - without this enzyme an amino acid (called phenylalanine) rises to harmful levels and can lead to developmental delay. (nsu.govt.nz)

in the absence of a particular enzyme, the abnormal or unregulated synthesis of complex molecules might result. (newworldencyclopedia.org)
For example, in familial hypercholesterolemia, enzymes do not receive the signals that typically inhibit cholesterol synthesis, so that excessive production of cholesterol occurs, leading to early coronary vascular disease and strokes in patients. (newworldencyclopedia.org)
Transcripts encoding enzymes in photosynthesis and starch synthesis were instead down-regulated. (biomedcentral.com)
To be available for TAG synthesis, carbons from sucrose must first be converted to pyruvate through cytosolic or plastidic glycolytic pathways and at some point be imported into the plastid to yield acetyl-coenzyme A (CoA) which feeds fatty acid (FA) synthesis with carbon backbones. (biomedcentral.com)

The gene for the protein has been cloned and a common mutation, G1528C , has been identified in 87% of mutant alleles. (medscape.com)
A defective gene and its protein product leads to thick sticky mucus. (nsu.govt.nz)
Therapies may include a restrictive diet, dietary supplements, and toxin-removal procedures, as well as enzyme replacement, gene transfer, or organ transplantation. (newworldencyclopedia.org)
Most metabolic disorders are inherited from one or both parents who carry a defective gene that regulates a particular protein in a class of the body's cells. (newworldencyclopedia.org)
Quental et al identified a homozygous 1-bp deletion (117delC) in the BCKDHA gene (this gene codes for the alpha subunit of the BCKD enzyme complex, specifically E1) in Portuguese Gypsies and estimated the carrier frequency for this deletion to be as high as 1.4% (about 1 case per 71 live births). (medscape.com)
The corresponding gene, AtWRINKLED1 ( AtWRI1, At3g54320), encodes a protein with two APETALA2-ethylene responsive element-binding protein (AP2/EREBP) motifs that is a signature for plant-specific transcription factors involved in a wide range of developmental processes [ 5 , 6 ]. (biomedcentral.com)

Acyl CoA Synthetase: What is it/What does it do? (flashcardmachine.com)

His Endocrinology research includes themes of Enzyme assay, Enzyme, Newborn screening, Myopathy and Acyl CoA dehydrogenase. (research.com)
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. (medscape.com)

Problems with just one enzyme in a pathway can lead to a metabolic disorder. (luriechildrens.org)
Using a combinatorial pathway library approach, we first mined a historical industrial strain collection for superior enzymes that we used to engineer the autotrophic acetogen Clostridium autoethanogenum . (nature.com)

Maple Syrup Urine Disease (MSUD) can be an autosomal recessive disorder of the second enzyme complicated. (woofahs.com)

Thus, the breakdown of proteins, carbohydrates or fats in food and drink is affected. (luriechildrens.org)
Several enzymes help break down fats so that they may be turned into energy. (msdmanuals.com)
Without these enzymes energy cannot be converted from fats and can lead to coma and death. (nsu.govt.nz)
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. (medlineplus.gov)
Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). (medlineplus.gov)
These enzymes help break down proteins and fats to provide energy for the body. (medlineplus.gov)
A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)

While the human (h) ETF has been studied in great detail, very little is known about the biochemical properties of the homologous protein in the model organism Saccharomyces cerevisiae (yETF). (elsevierpure.com)
Here, we report the biochemical properties of yETF and Dld2 as well as the electron transfer reaction between the two proteins. (elsevierpure.com)
Barycki JJ, O'Brien LK, Bratt JM, Zhang R, Sanishvili R, Strauss AW, and Banaszak LJ.Â Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxycyl-CoA dehydrogenase provide insights into catalytic mechanism.Â Biochemistry 38, 5786-5798 (1999). (slu.edu)

The flavoenzyme nitroalkane oxidase is a member of the acyl-CoA dehydrogenase superfamily. (rcsb.org)
g) This enzyme system contains copper, a component of several oxidase enzymes. (biologydiscussion.com)

Barycki JJ, Oâ€™Brien LK, Strauss AW, and Banaszak LJ.Â Sequestration of the active site by interdomain shifting.Â Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase.Â Journal of Biological Chemistry 275, 27186-27196 (2000). (slu.edu)

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)
Unfortunately, current models, including the most recent human metabolic reconstructions Recon and HMR, typically treat enzyme-bound flavins incorrectly as free metabolites. (wur.nl)
Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
All children are at increased risk for metabolic decompensation during periods of increased protein catabolism (eg, intercurrent illness, trauma, surgery). (medscape.com)

The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. (wikipedia.org)

It has a preference for acyl groups with a carbon chain length between 4 to 16. (bvsalud.org)

Barycki JJ, Oâ€™Brien LK, Strauss AW, and Banaszak LJ.Â Glutamate 170 of the catalytic dyad of human L-3-hydroxyacyl-CoA dehydrogenase is required for proper orientation of the catalytic histidine and structural integrity of the enzyme.Â Journal of Biological Chemistry 276, 36718-36726 (2001). (slu.edu)
Catalytic heterogeneity of the mutant enzyme in two patients. (rhea-db.org)
The BCKD enzyme complex, which is associated with the inner mitochondrial membrane, has 3 different catalytic components (ie, E1, E2, E3) and 2 associated regulatory enzymes (ie, BCKD phosphatase, BCKD kinase). (medscape.com)

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)

An error in any of the genetic instructions can lead to an enzyme that does not work, or to no enzyme being made at all. (luriechildrens.org)
This complex coordination can be disrupted through a genetic defect in an enzyme. (newworldencyclopedia.org)

The molecular defect occurs in the mitochondrial trifunctional protein (MTP). (medscape.com)
b) In cells from patient 2, the rate of degradation of newly synthesized trifunctional protein was faster than that in control cells, giving rise to a trifunctional protein amounting to 60% of the control levels. (rhea-db.org)
These data suggest a subtle abnormality of trifunctional protein in cells from patient 2. (rhea-db.org)

Through similar chemical reactions, the SBCAD enzyme also aids in the breakdown of other amino acids. (medlineplus.gov)

The protein is an octamer composed of 4 alpha subunits that contain the LCEH and long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activities, and 4 beta subunits that contain the LCKT activity. (medscape.com)
This enzyme complex metabolizes long-chain fatty acids, and the long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity is specific for compounds of C12-C16 chain length. (medscape.com)

Acyl glycines are normally minor metabolites of fatty acids. (hmdb.ca)

The results showed that a total of 278 proteins with significant changes were identified by quantitative proteomic analysis, of which 118 proteins were significantly upregulated and 160 proteins were significantly downregulated in myocardial tissue. (frontiersin.org)
Avian species do not have brown adipose tissue (BAT), and lack Uncoupling Protein 1 ( UCP1 ) [ 12 ]. (biomedcentral.com)
an enzyme defective within a particular organ or tissue, such as the liver , muscle , or brain , might lead to low energy production or prevent transport to the part of the body requiring energy. (newworldencyclopedia.org)
This phytopathogen has an abundance of secreted oxidases, peroxidases, and hydrolytic enzymes for degrading cell wall polysaccharides and lignocelluloses to penetrate into the host tissue. (biomedcentral.com)

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)

The extracts were dried and resuspended in the mobile phase, and then analyzed using an optimized 1.9 min injection-to-injection liquid chromatography method coupled with tandem mass spectrometry (LC-MS/MS). The combination of ACN and CIPS improved the detection for I2S products without significant detriment to other analytes, which is attributable to a more complete coagulation and separation of heme, proteins, and extracted residual salts. (cdc.gov)

Anatomy3

Organisms1

Diseases1

Chemicals and Drugs80

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes10

Information Science3

Long-chain acyl CoA dehydroge1

Deficiency43

Chain acyl-CoA dehydroge4

NADH2

LCHAD1

Reductase1

Substrate10

Glutaryl-CoA dehydroge1

Oxidation11

Riboflavin responsive1

Mitochondria1

Enoyl2

Metabolism15

Isoleucine2

Flavoprotein dehydrogenase1

Short chain dehydro1

Acetyl CoA2

Alcohol dehydrogenase2

Mutations8

Accumulate2

Pyruvate dehydrogenase1

Genes2

Amino acid1

Synthesis4

Gene6

Synthetase1

Newborn2

Pathway2

Maple syrup u1

Fats7

Biochemical3

Oxidase2

Evidence for distinct1

Metabolic4

Mitochondrial matrix1

Carbon1

Catalytic3

Chemical reaction1

Genetic2

Trifunctional protein3

SBCAD1

Coenzyme2

Metabolites1

Tissue4

Mitogen-activa1

Heme1