Long chain 3 hydroxy acyl coenzyme a dehydrogenase. Medical search. Frequent questions

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy. (wikipedia.org)
Medium chain acyl dehydrogenase deficiency Reference, Genetics Home. (wikipedia.org)
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). (medlineplus.gov)
Some patients who are deficient in all 3 enzymatic activities of the protein have been described, although most have an isolated LCHAD deficiency, which results in the inability to metabolize long-chain fatty acids. (medscape.com)
Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)
Patients with LCHAD 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)
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)
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)
Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. (nih.gov)
Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al. (nih.gov)
Admit patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase (LCHAD) deficiency for medical management of acute hypoketotic hypoglycemic encephalopathy. (medscape.com)
If diagnosis of long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency is suspected but workup facilities are inadequate and no metabolic specialists are available, transfer of patient to a tertiary care hospital for further workup and management may be necessary. (medscape.com)
Advise avoidance of exercise and dehydration with hot temperatures because rhabdomyolysis and myoglobinuria may occur with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency. (medscape.com)
Screening for long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency should be performed in newborns from mothers with hepatic complications during pregnancy such as acute fatty liver of pregnancy or severe hemolytic anemia, elevated liver enzymes, low platelet count (HELLP) syndrome. (medscape.com)
Pregnancy: Pregnancy complications reported in long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency carriers (with a long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficient fetus), include HELLP syndrome and acute fatty liver of pregnancy. (medscape.com)
[4] Trifunctional protein deficiency is characterized by decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase. (wikidoc.org)
Endogenous synthesis and dietary intake provide sufficient coenzyme Q 10 to prevent deficiency in healthy people, although coenzyme Q 10 concentrations in tissues decline with age. (oregonstate.edu)
[ 1 ] Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. (medscape.com)

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. (medscape.com)
This enzyme complex metabolizes long-chain fatty acids, and LCHAD activity is specific for compounds of C12-C16 chain length. (medscape.com)

The pyruvate dehydrogenase reaction is irreversible. (wikilectures.eu)
Peroxisomes of plant leaves contain catalaze together with the enzymes of glycolate pathway, as glycolate oxidase, glutamate glyoxylate, serine-glyoxylate and aspirate-a-ketoglutarate aminotransferases, hydroxyl pyruvate reductase and malic dehydrogenase. (exama2z.in)
protein_coding" "AAC74323","adhE","Escherichia coli","fused acetaldehyde-CoA dehydrogenase/iron-dependent alcohol dehydrogenase/pyruvate-formate lyase deactivase [Ensembl]. (ntu.edu.sg)

TFP has three enzymatic activities - long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. (nih.gov)
The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. (nih.gov)

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

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)
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)

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. (nih.gov)
Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients. (nih.gov)
Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase , acetyl-CoA acyltransferase , or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene . (wikidoc.org)

Aldehyde dehydrogenase family, Iron-containing alcohol dehydrogenase [Interproscan]. (ntu.edu.sg)

The lysosomal membranes that separate those digestive enzymes from the rest of the cell contain relatively high concentrations of coenzyme Q 10 . (oregonstate.edu)
A subclass of enzymes which includes all dehydrogenases acting on primary and secondary alcohols as well as hemiacetals. (curehunter.com)

Mutations in the HADHA gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein. (wikipedia.org)
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)
The HADHB protein catalyzes the final step of beta-oxidation, in which 3-ketoacyl CoA is cleaved by the thiol group of another molecule of Coenzyme A . The thiol is inserted between C-2 and C-3, which yields an acetyl CoA molecule and an acyl CoA molecule, which is two carbons shorter. (wikidoc.org)
[10] Additionally, HADHB has been shown to bind to the distal 3' untranslated region of renin mRNA, thereby regulating renin protein expression. (wikidoc.org)
Those with a longer chain use different transport systems in the membrane enabling their facilitated diffusion - for example FATP (fatty acid transport protein) or FAT/CD36 (fatty acid translocase). (wikilectures.eu)

Both NADH and FADH2 are produced by both beta-oxidation and the TCA cycle and are used by the mitochondrial electron transport chain to produce ATP . (assaygenie.com)
As part of the mitochondrial electron transport chain , coenzyme Q 10 accepts electrons from reducing equivalents generated during fatty acid and glucose metabolism and then transfers them to electron acceptors. (oregonstate.edu)

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)
Regulation of the intramitochondrial free CoA also is affected, with accumulation of acyl-CoA esters in the mitochondria. (medscape.com)

Long-chain fatty acids from food and body fat cannot be metabolized and processed without sufficient levels of this enzyme. (wikipedia.org)
This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. (medlineplus.gov)
Of the following, the MOST appropriate laboratory study to obtain is A. B. C. D. E. leukocyte lysosomal enzyme activities plasma long-chain fatty acid levels serum carnitine level urine for reducing substances urine organic acid levels A 3-month-old infant who has a history of gastroesophageal reflux has had increasing vomiting for 2 days. (abcdocz.com)
Isoform 2 and isoform 3 lack enzyme activity. (smpdb.ca)

Thiolytic cleavage: Catalyzed by beta-ketothiolase, this step cleaves the terminal acetyl-CoA group and forms a new acyl-CoA which is two carbons shorter than the previous one. (assaygenie.com)

We reported the molecular characterization of the cotton (Gossypium hirsutum) GhFAD2 gene family and the essential role of GhFAD2-3 in cotton anther development. (researchsquare.com)

Carnitine therapy in long-chain fatty acid oxidation disorders is in question because it promotes long-chain acylcarnitine formation, and these acylcarnitines may cause ventricular arrhythmogenesis. (medscape.com)
In contrast, others have favored the concept that exaggerated insulin secretion will cause insulin resistance ( 3 , 4 ), possibly via fatty acid-mediated impairment of insulin action ( 5 - 7 ). (diabetesjournals.org)
Moreover, the ration of monounsaturated and polyunsaturated fatty acid reached to 5.43 in fad2-3 anther, far beyond WT that of which was only 0.39. (researchsquare.com)
Based on compositional analysis of anthers cuticle and transcriptome data, we demonstrated it was unfavorable to the development of anther by regulating GhFAD2-3 expression level to increase the oleic acid content. (researchsquare.com)
Our work demonstrated the importance of C18:2 and/or C18:3 in development of pollen exine and anther cuticle in cotton, and provided clue for further investigation of the physiological significance of the fatty acid composition in plant growth and development. (researchsquare.com)
Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. (smpdb.ca)
2 , 3 Taurine is considered a non-essential amino acid in rodents, an essential amino acid in cats, and a conditionally essential amino acid in humans. (jomes.org)

Free circulating insulin activates insulin receptors on the surface of target cells eliciting a signaling cascade initiated by the activation of insulin receptor substrates (IRS 1-4) followed by phosphorylation of phosphoinositide 3-kinase (PI3K), which manages metabolic response including PDK1 and Akt stimulation by phosphorylation. (encyclopedia.pub)
Coenzyme Q 10 plays a central role in mitochondrial oxidative phosphorylation and the production of adenosine triphosphate ( ATP ). (oregonstate.edu)

The resulting long-chain fatty-acyl-CoA is then modified by carnitine palmitoyltransferase 1 (CPT1) to acylcarnitine, which is then transported across the inner mitochondrial membrane by carnitine translocase (CAT). (assaygenie.com)
CPT2 reconverts the long-chain acylcarnitine back to long-chain acyl-CoA before beta-oxidation. (assaygenie.com)

Oral high-dose coenzyme Q 10 is usually effective to treat mitochondrial disorders that are caused by mutations in coenzyme Q 10 biosynthetic genes . (oregonstate.edu)

Proliferation cluster comprised 1028 genes up-regulated from days 3 to 8 of culture meanwhile the differentiation cluster was characterized by 2140 induced genes from days 15 to 21. (biomedcentral.com)

Carefully review diet compliance regarding avoidance of fasting, compliance with fat-restricted diet, supplementation of uncooked cornstarch, and intake of medium-chain triglyceride (MCT) oil. (medscape.com)
Supplementation of dietary fat with medium-chain fatty acids is necessary. (medscape.com)
Oral supplementation of coenzyme Q 10 increases coenzyme Q 10 concentrations in plasma and lipoproteins, but it is unclear whether concentrations in peripheral tissues are increased, especially in healthy individuals. (oregonstate.edu)
There is some evidence to suggest that coenzyme Q 10 supplementation may be a useful adjunct to conventional medical therapy for congestive heart failure and in patients undergoing coronary artery bypass graft surgery. (oregonstate.edu)
There are currently no proven therapeutic benefits of coenzyme Q 10 supplementation in diabetes mellitus , neurodegenerative diseases , inherited ataxias , or breast cancer . (oregonstate.edu)
Coenzyme Q 10 supplementation does not appear to improve athletic performance. (oregonstate.edu)

The 3 areas of involvement include (1) the cardiac muscle, which is affected by progressive cardiomyopathy (by far, the most common form of presentation), (2) the CNS, which is affected by encephalopathy caused by hypoketotic hypoglycemia, and (3) the skeletal muscle, which is affected by myopathy. (medscape.com)

Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, retina, and muscles, causing more serious complications. (wikipedia.org)
GhFAD2-3 is ubiquitously and relatively highly expressed in all tissues analyzed, particularly in anthers. (researchsquare.com)

Coenzyme Q 10 is soluble in lipids (fats) and is found in virtually all cell membranes , including mitochondrial membranes. (oregonstate.edu)

All animals, including humans, can synthesize ubiquinones, hence, coenzyme Q 10 is not considered a vitamin (1) . (oregonstate.edu)

Lipid molecules have these properties because they consist largely of long hydrocarbon tails which are lipophilic in nature as well as polar headgroups (e.g. phosphate-based functionality, and/or inositol based functionality). (medmuv.com)
Changing an open-chain hydrocarbon to a closed ring. (lookformedical.com)

The conversion of energy from carbohydrates and fats to ATP , the form of energy used by cells, requires the presence of coenzyme Q 10 in the inner mitochondrial membrane. (oregonstate.edu)

Long-chain acylcarnitines are also toxic and may have an arrhythmogenic effect, causing sudden cardiac death. (medscape.com)

Catalase can be visualized with the electron microscope when cells are treated with the stain DAB (i.e., 3,3′-diaminobenzidine). (exama2z.in)

Coenzyme Q 10 is a member of the ubiquinone family of compounds. (oregonstate.edu)

Research suggests that coenzyme Q 10 plays an important role in the transport of protons across lysosomal membranes to maintain the optimal pH (2, 3) . (oregonstate.edu)

In this process, acetone, butanol and ethanol are produced in a mixed fermentation (typically in a ratio of 3:6:1) by the solventogenic Clostridium species Clostridium acetobutylicum , Clostridium beijerinckii , Clostridium saccharobutylicum or Clostridium saccharoperbutylacetonicum from sugar or starch feedstocks 7 . (nature.com)
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)

Long-term complications include peripheral neuropathy and retinopathy. (nih.gov)

Short chain fatty acids (↓12C) can penetrate by simple diffusion . (wikilectures.eu)
short chain dehydrogenase [Interproscan]. (ntu.edu.sg)

Clinical manifestations typically begin after 2 to 3 months of age and usually follow fasting (as little as 12 hours). (msdmanuals.com)

[ 3 , 4 ] These episodes typically appear for the first time after a fast, which usually occurs in the context of intercurrent illness with vomiting. (medscape.com)

The ability of the benzoquinone head group of coenzyme Q 10 to accept and donate electrons is a critical feature to its function. (oregonstate.edu)

Anatomy9

Organisms12

Diseases4

Chemicals and Drugs168

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Phenomena and Processes34

Disciplines and Occupations1

Information Science4

Health Care1

Deficiency20

LCHAD2

Pyruvate3

Enoyl-CoA hydra2

Reductase1

Hydratase2

Subunit3

Alcohol dehydrogenase1

Enzymes2

Protein5

Mitochondrial elect2

Esters2

Enzyme4

Carbons shorter1

Gene1

Acid7

Phosphorylation2

Acylcarnitine2

Mutations1

Genes1

Supplementation6

Hypoketotic1

Tissues2

Lipids1

Synthesize1

Hydrocarbon2

Fats1

Cardiac1

Electron1

Compounds1

Lysosomal1

Ratio2

Retinopathy1

Short chain2

Clinical1

Typically1

Group1