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Acyl-CoA dehydrogenase, very long chain

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, fibrillin-1, HAD, MCAD
Papers on VLCAD
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Wilson et al., Auckland, New Zealand. In J Inherit Metab Dis, Feb 2016
UNASSIGNED: Very long chain acyl-CoA dehydrogenase deficiency (VLCADD, OMIM #201475) has been increasingly diagnosed since the advent of expanded newborn screening (NBS).
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Graham et al., Houston, United States. In J Pediatr, Dec 2015
STUDY DESIGN: We performed a retrospective chart review and identified 17 patients with elevated C14:1 and C14:2 plasma acylcarnitine levels after a controlled fast and with testing for VLCAD deficiency (ACADVL sequencing or fibroblast fatty acid oxidation studies).
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Wong et al., Houston, United States. In Mol Genet Metab, Nov 2015
Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS).
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
Bekri et al., Rouen, France. In Jimd Rep, Nov 2015
ACAD9, a member of acyl-CoA dehydrogenase family, has high homology with VLCAD (very long-chain acyl-CoA dehydrogenase) and harbors a homodimer structure.
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Visser et al., Amsterdam, Netherlands. In Jimd Rep, Nov 2015
OBJECTIVE: To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.
Bross et al., Århus, Denmark. In Jimd Rep, Oct 2015
To assess the use of our protocol for analysis of HDFs from patients with inherited diseases, we analysed HDFs from two patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD), one with a severe clinical phenotype and one with a mild one.
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies.
Amaral et al., Porto Alegre, Brazil. In Biosci Rep, 2014
We will briefly summarize the current knowledge obtained from patients and genetic mouse models with these disorders indicating that disruption of mitochondrial energy, redox and calcium homoeostasis is involved in the pathophysiology of the tissue damage in the more common FAOD, including medium-chain acyl-CoA dehydrogenase (MCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencies.
Renal response to short- and long-term exercise in very-long-chain acyl-CoA dehydrogenase-deficient (VLCAD(-/-)) mice.
Spiekerkoetter et al., Freiburg, Germany. In Mol Cell Pediatr, 2014
CONCLUSIONS: Our data demonstrate that despite Acadvl ablation, the kidney of VLCAD(-/-) mice fully compensates for impaired fatty acid oxidation by enhanced glycogen utilization and preserves renal energy metabolism and function.
AICAR Protects against High Palmitate/High Insulin-Induced Intramyocellular Lipid Accumulation and Insulin Resistance in HL-1 Cardiac Cells by Inducing PPAR-Target Gene Expression.
Neumann et al., Maastricht, Netherlands. In Ppar Res, 2014
AICAR treatment induced the expression of Acadvl and Glut4, which correlated to prevention of the HP/HI-induced intramyocellular lipid build-up, and attenuation of the HP/HI-induced impairment of glucose uptake.
Early presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcome.
Sedgwick, Milwaukee, United States. In J Pediatr Nurs, 2013
A clinical case of very long chain fatty acid acyl-CoA dehydrogenase (VLCAD) deficiency with cardiac manifestation, is presented.
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Spiekerkoetter et al., Düsseldorf, Germany. In J Inherit Metab Dis, 2012
Identification of 2 VLCAD mutations leads to precautions in the management of the children with VLCAD deficiency.
Prolonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.
Des Rosiers et al., Montréal, Canada. In Am J Physiol Heart Circ Physiol, 2011
Report a longer QTc interval and lipid alterations in VLCAD null mice.
[Correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme].
Wang et al., Beijing, China. In Zhonghua Yi Xue Za Zhi, 2011
The expressions of LCHAD gene and protein are remarkably reduced in early onset severe preeclampsia and HELLP syndrome.
Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.
Kubo et al., Fukuoka, Japan. In Leg Med (tokyo), 2011
Analyzed potential rhabdomyolysis-susceptibility genes (RYR 1, CPT II, VLCAD and CYP 2D6) from autopsy samples of methamphetamine abusers; no obvious relationship between the genetic mutations observed in this study and rhabdomyolysis was seen.
Fasting-induced oxidative stress in very long chain acyl-CoA dehydrogenase-deficient mice.
Spiekerkoetter et al., Düsseldorf, Germany. In Febs J, 2010
Data show that in VLCAD knockout mice fed a long-chain triglyceride diet, fasting results in accumulation of liver lipids, hepatopathy and upregulation of peroxisomal and microsomal oxidation pathways as well as antioxidant enzyme activities and TBARS.
State of the art in muscle lipid diseases.
Nishino et al., Tokyo, Japan. In Acta Myol, 2010
This group includes beta-oxidation cycle defects and deficiencies of carnitine palmitoyltransferase II (CPTH) and very-long-chain acyl-CoA dehydrogenase (VLCAD).
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models.
Wood et al., Düsseldorf, Germany. In J Inherit Metab Dis, 2010
Supplementation with L-carnitine does not prevent low tissue carnitine levels and induces acylcarnitine production having potentially toxic effects, as presented in very-long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice.
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
Spiekerkoetter, Düsseldorf, Germany. In J Inherit Metab Dis, 2010
However, some isolated mutations have been identified to be associated with only mild phenotypes, e.g., the V243A mutation in very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Vogel et al., Nijmegen, Netherlands. In Cell Metab, 2010
It closely resembles very long-chain acyl-CoA dehydrogenase (VLCAD), involved in mitochondrial beta oxidation of long-chain fatty acids.
Resistance to high-fat diet-induced obesity and insulin resistance in mice with very long-chain acyl-CoA dehydrogenase deficiency.
Shulman et al., New Haven, United States. In Cell Metab, 2010
Paradoxically, mice with an inherited deficiency of the mitochondrial fatty acid oxidation enzyme, very long-chain acyl-CoA dehydrogenase (VLCAD), were protected from high-fat diet-induced obesity and liver and muscle insulin resistance.
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