medical citation needed] The mechanism of this condition indicates that the mitochondrial trifunction protein catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. (wikipedia.org)
[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)
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)
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)
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 contains enoyl-CoA hydratase, long-chain-3-hydroxyacyl-CoA dehydrogenase, and acetyl-CoA C-acyltransferase activities and plays an important role in the metabolism of long chain FATTY ACIDS. (bvsalud.org)
Acyl-CoA dehydrogenase defici1
Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)
Deficiency9
Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. (wikipedia.org)
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)
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)
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)
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)
Abnormal nerve conduction velocities have been recorded in patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency and peripheral neuropathy. (medscape.com)
A metabolic specialist needs to confirm or exclude diagnosis of long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency by requesting an acylcarnitine profile and urine organic acid analysis. (medscape.com)
LCHAD2
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. (nih.gov)
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)
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)
HADHB is a subunit of the mitochondrial trifunctional protein and has thiolase activity. (wikidoc.org)
Subunit2
Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients. (nih.gov)
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)
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 deficient activity of long-chain 3-hydroxy acyl-coenzyme A dehydrogenase may be diagnosed in fibroblasts, as well as the other enzyme activities of the trifunctional protein. (medscape.com)
Anaerobic1
The microcosms were constructed and incubated under anaerobic conditions in serum bottles with an initial N 2 headspace and were sampled every 5 days for metagenome and metatranscriptome profiles in combination with biogeochemical measurements. (frontiersin.org)
Gene1
Gene(s) directly associated with this condition or phenotype. (nih.gov)
Fibroblasts1
The enzyme usually is measured in fibroblasts in the reverse direction, with 3-oxopalmitoyl CoA as substrate and measurement of the decrease in absorbance at 340 nm of the nicotinamide adenine dinucleotide-reduced form (NADH) electron donor. (medscape.com)
Substrate1
Comparison of the stability and substrate specificity of purified peroxisomal 3-oxoacyl-CoA thiolases A and B from rat liver. (rhea-db.org)
Long-chain3
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)
The 3-hydroxy-acyl-CoA dehydrogenase activity with medium-chain to long-chain substrates was decreased drastically, with minor changes in activities of the two other enzymes. (rhea-db.org)
Long-chain acylcarnitine levels are increased with 3-hydroxydicarboxylic derivatives of the C16:0, C18:1, and C18:2 species. (medscape.com)
Activity1
Consistent with this relatively high divergence among the subtype-specific ligand binding domains, differential activation of PPARs by endogenous and exogenous compounds may account for the specific biological activity of the three PPAR subtypes [ 2 , 3 ]. (biomedcentral.com)
Disease1
1) Know Your Disease, 2) Know Your State, and 3) Know Your Story will help guide the process. (ldnbs.org)
Genetic2
Genetic counseling is available for this condition. (wikipedia.org)
Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. (medlineplus.gov)
Acute hypoketotic1
The hallmark biochemical feature of this condition is acute hypoketotic hypoglycemia. (medscape.com)
Electron1
Catalase can be visualized with the electron microscope when cells are treated with the stain DAB (i.e., 3,3′-diaminobenzidine). (exama2z.in)
Syndrome1
neonatal onset of a severe, lethal condition resulting in sudden infant death syndrome (SIDS), [5] infantile onset of a hepatic Reye-like syndrome , and late-adolescent onset of primarily a skeletal myopathy . (wikidoc.org)
Type1
Most patients diagnosed with advanced lung cancer accompany poor prognosis, and thus standard therapies such as radio-chemotherapy or targeted treatment confer little benefit for the survival rate [ 2 , 3 ].Thus, recently, different oncologic features between patients even with the same histologic type of tumors have led to personalized genomic screening to identify the most effective, individualized treatment option that matches each patient [ 4 ]. (oncotarget.com)
Typically2
[ 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)
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)
Patients1
This multicenter, randomized phase 3 study evaluated the efficacy and safety of 0.3 mg/kg intravenous mogamulizumab, a monoclonal antibody targeting-CC chemokine receptor 4, every 12 weeks in HAM/TSP patients. (bvsalud.org)
Categories2
RSP_1777 is enriched for 4 functions in 3 categories. (systemsbiology.net)
RSP_3463 is enriched for 1 functions in 3 categories. (systemsbiology.net)
Main1
Only the main profile, including all conditions, is shown. (ntu.edu.sg)