| Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. | Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R., | 11/16/2023 |
| Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients. | Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients.
Hsu CC, Wang JS, Shyu YC, Fu TC, Juan YH, Yuan SS, Wang CH, Yeh CH, Liao PC, Wu HY, Hsu PH., Free PMC Article | 03/17/2023 |
| Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor delta Agonist Improves Cellular Bioenergetics. | Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
D'Annibale OM, Phua YL, Van't Land C, Karunanidhi A, Dorenbaum A, Mohsen AW, Vockley J., Free PMC Article | 09/24/2022 |
| Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency. | Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.
Prew MS, Camara CM, Botzanowski T, Moroco JA, Bloch NB, Levy HR, Seo HS, Dhe-Paganon S, Bird GH, Herce HD, Gygi MA, Escudero S, Wales TE, Engen JR, Walensky LD., Free PMC Article | 07/2/2022 |
| Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening. | Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
D'Annibale OM, Koppes EA, Sethuraman M, Bloom K, Mohsen AW, Vockley J., Free PMC Article | 05/14/2022 |
| VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis. | VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis.
Zhu QW, Yu Y, Zhang Y, Wang XH. | 04/30/2022 |
| Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province. | Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
Yang C, Shi C, Zhou C, Wan Q, Zhou Y, Chen X, Jin X, Huang C, Xu P., Free PMC Article | 11/6/2021 |
| Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency. | Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
Chen T, Tong F, Wu XY, Zhu L, Yi QZ, Zheng J, Yang RL, Zhao ZY, Cang XH, Shu Q, Jiang PP., Free PMC Article | 08/28/2021 |
| Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. | Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR., Free PMC Article | 06/5/2021 |
| One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency. | One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Li X, Ma R, Liu Y, Kang L, He R, Song J, Ren J, Li Y, Huang M, Men J, Yang Y. | 09/26/2020 |
| homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy | Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
Carlus SJ, Almuzaini IS, Karthikeyan M, Loganathan L, Al-Harbi GS, Abdallah AM, Al-Harbi KM. | 08/1/2020 |
| Sequencing of the ACADVL gene revealed that all individuals with activities below 24% were true Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) patients, individuals with residual activities between 24 and 27% carried either one or two mutations. Twenty new mutations could be identified and functionally classified based on their effect on enzyme function. | The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Hesse J, Braun C, Behringer S, Matysiak U, Spiekerkoetter U, Tucci S. | 11/9/2019 |
| The authors provide novel insights into the cellular energy household of cells from HADHA/ACADVL patients and demonstrate for the first time a connection between fatty acid metabolism, mitochondrial morphology and reactive oxygen species in patients with these rare genetic disorders. | Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
Hagenbuchner J, Scholl-Buergi S, Karall D, Ausserlechner MJ., Free PMC Article | 09/28/2019 |
| VLCADD is relatively rare in southern China, for which late-onset form is common | [Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
Tong F, Chen T, Jiang P, Yang R, Zhao Z, Shu Q. | 08/24/2019 |
| There are currently no biochemical markers for prediction of disease severity and for the need for treatment in VLCAD deficiency. Mutation analysis may offer predictive value but this may not be robust enough for a large proportion of those mutations that have not been previously reported in clinically affected patients. | VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans M, Andresen BS, Nation J, Boneh A. | 12/16/2017 |
| We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1-18year. | Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J, IBEMC., Free PMC Article | 12/16/2017 |
| LCHAD and MCAD are differentially expressed in maternal and fetal tissues during normal late pregnancy, which may represent a metabolic adaptation in response to physiological maternal dyslipidemia during late pregnancy. | Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy.
Bartha JL, Bugatto F, Fernández-Deudero Á, Fernández-Macías R, Perdomo G., Free PMC Article | 04/8/2017 |
| following variants should be considered likely pathogenic c.1273G > A (p.A425T), c.1001T > G (p.M334R), c.538G > A (p.A180T), c.640T > G (p.F214V), c.1076C > T (p.A359V), c.1019G > T (p.G340V), c.889_891delGAG (p.E297del), and c.1103A > C (p.Q368P); patients homozygous for the most common pathogenic variant, c.848T > C (p.V283A) can be expected to have a more benign clinical course | Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ., Free PMC Article | 09/3/2016 |
| 11 mutations in ACADVL gene in 7 patients, 7 reported (p.S22X, p.W427X, p.A213T, p.G222R, p.R450H, c.296-297delCA, c.1605+1G>T), 4 novel (p.S72F, p.Q100X, p.M437T, p.D466Y). p.R450H and p.D466Y (14.28%, 2/14 alleles) mutations identified in 2 alleles. | Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF. | 01/17/2015 |
| Case Report: missense mutation within the ACADVL gene responsible for very-long-chain acyl-CoA dehydrogenase deficiency and sudden infant death. | Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.
Coughlin CR 2nd, Ficicioglu C. | 04/12/2014 |
| These results emphasize the importance of functional investigation of abnormal NBS or clinical testing suggestive but not diagnostic of very-long-chain acyl-CoA dehydrogenase . | Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J., Free PMC Article | 11/16/2013 |
| These findings support the importance of considering that mutations may be present in the ACADVL gene when a significant partial deficiency is found in CPTII activity, but no mutations in the CPT2 gene can be identified. | Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.
Isackson PJ, Sutton KA, Hostetler KY, Vladutiu GD. | 03/23/2013 |
| Identification of 2 VLCAD mutations leads to precautions in the management of the children with VLCAD deficiency. | VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U. | 09/8/2012 |
| The expressions of LCHAD gene and protein are remarkably reduced in early onset severe preeclampsia and HELLP syndrome. | [Correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme].
Sun XL, Yang Z, Wang JL, Sun MN, Wu SY, Wang XY. | 04/28/2012 |
| 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. | Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.
Matsusue A, Hara K, Kashiwagi M, Kageura M, Sugimura T, Kubo S. | 06/18/2011 |